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Amyloidosis v1.12 NLRP3 Eleanor Williams Tag to_be_confirmed_NHSE tag was added to gene: NLRP3.
Amyloidosis v1.12 NLRP3 Arina Puzriakova Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome, 191900; AA amyloidosis; renal amyloidosis to Muckle-Wells syndrome, OMIM:191900; Renal amyloidosis
Amyloidosis v1.11 APOA1 Sarah Leigh changed review comment from: It would appear that certain heterozygous APOA1 variants are associated with Amyloidosis, 3 or more types OMIM:105200 (PMID 32022753, table 1).; to: It would appear that certain heterozygous APOA1 variants are associated with Amyloidosis, 3 or more types OMIM:105200 (PMID 32022753, 24 variants listed in table 1).
Amyloidosis v1.11 APOA1 Sarah Leigh edited their review of gene: APOA1: Added comment: It would appear that certain heterozygous APOA1 variants are associated with Amyloidosis, 3 or more types OMIM:105200 (PMID 32022753, table 1).; Changed rating: GREEN; Changed publications to: 32022753
Amyloidosis v1.11 APOA1 Sarah Leigh Publications for gene: APOA1 were set to 27240838; 21820994; 16925563
Amyloidosis v1.10 APOA1 Sarah Leigh Added comment: Comment on mode of inheritance: Both biallelic and monoallelic variants have been associated with ApoA-I and apoC-III deficiency, combined OMIM:618463;
Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463;hypoalphalipoproteinemia, primary, 2 MONDO:0032766
Amyloidosis v1.10 APOA1 Sarah Leigh Mode of inheritance for gene: APOA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amyloidosis v1.9 APOA1 Sarah Leigh Phenotypes for gene: APOA1 were changed from Amyloidosis, 3 or more types 105200 to Amyloidosis, 3 or more types OMIM:105200; familial visceral amyloidosis MONDO:0007099
Amyloidosis v1.8 NLRP3 Arina Puzriakova Classified gene: NLRP3 as Amber List (moderate evidence)
Amyloidosis v1.8 NLRP3 Arina Puzriakova Added comment: Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.
Amyloidosis v1.8 NLRP3 Arina Puzriakova Gene: nlrp3 has been classified as Amber List (Moderate Evidence).
Amyloidosis v1.7 NLRP3 Eleanor Williams Tag for-review tag was added to gene: NLRP3.
Amyloidosis v1.7 NLRP3 Rebecca Foulger Classified gene: NLRP3 as Green List (high evidence)
Amyloidosis v1.7 NLRP3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. NLRP3 was added to panel and rated Green by Zornitza Stark. Not yet in G2P but sufficient cases to support gene:disease association for NLRP3:Muckle-Wells syndrome, and approx 25-30% of MWS cases have an AA amyloidosis phenotype. Cases of NRLP3 variants in amyloidosis patients reported in PMIDs 30431487, 11992256. In summary: sufficient evidence to support association with MWS, and 25-30% of MWS patients have amyloidosis.
Amyloidosis v1.7 NLRP3 Rebecca Foulger Gene: nlrp3 has been classified as Green List (High Evidence).
Amyloidosis v1.6 NLRP3 Rebecca Foulger commented on gene: NLRP3: PMID:11992256 (Dode et al., 2002) identify NLRP3 (CIAS1) variants in 9 unrelated families with MWS. AA amyloidosis is recorded amongst the phenotypes in family 1 (R260W variant).
Amyloidosis v1.6 NLRP3 Rebecca Foulger commented on gene: NLRP3: PMID:30431487 (Pandiarajan et al., 2018) report a 10-yr old child with nephrotic syndrome. The patient had a NLRP3 variant (c.1055C>T, p.Ala352Val) and features including AA amyloidosis.
Amyloidosis v1.6 NLRP3 Rebecca Foulger commented on gene: NLRP3: PMID:31057541 (Fingerhutová et al. 2019) report 1 family (11 individuals) with MWS and a p.Ala441Val variant in NLRP3. 2 patients aged over 50 years suffered with hearing loss and AA amyloidosis.
Amyloidosis v1.6 NLRP3 Rebecca Foulger commented on gene: NLRP3: PMID:27435956 (Villalba et al., 2016) report a 5-year old MWS patient with T348M variant in NLRP3. They report that amyloidosis and hearing loss is seen in ~25% of patients.
Amyloidosis v1.6 NLRP3 Rebecca Foulger commented on gene: NLRP3: PMID:28229991 (Hu et al., 2017) report a patient with periodic fever, arthralgia and skin lesions and an A92T variant in NLRP3 (p.D31V).
Amyloidosis v1.6 NLRP3 Rebecca Foulger commented on gene: NLRP3
Amyloidosis v1.6 NLRP3 Rebecca Foulger Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome, 191900 to Muckle-Wells syndrome, 191900; AA amyloidosis; renal amyloidosis
Amyloidosis v1.5 NLRP3 Rebecca Foulger Publications for gene: NLRP3 were set to 11687797; 28229991; 27435956; 31057541
Amyloidosis v1.4 NLRP3 Rebecca Foulger Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome, 191900 to Muckle-Wells syndrome, 191900
Amyloidosis v1.4 NLRP3 Rebecca Foulger Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome to Muckle-Wells syndrome, 191900
Amyloidosis v1.3 Eleanor Williams Panel version has been signed off
Amyloidosis v1.2 Eleanor Williams Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Amyloidosis v1.0 NLRP3 Zornitza Stark gene: NLRP3 was added
gene: NLRP3 was added to Amyloidosis. Sources: Expert list
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLRP3 were set to 11687797; 28229991; 27435956; 31057541
Phenotypes for gene: NLRP3 were set to Muckle-Wells syndrome
Review for gene: NLRP3 was set to GREEN
Added comment: Renal amyloidosis described in this disorder.
Sources: Expert list
Amyloidosis v1.0 Eleanor Williams promoted panel to version 1.0
Amyloidosis v0.19 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Amyloidosis v0.18 CST3 Eleanor Williams changed review comment from: Comment on list classification: Demoting from green to amber. Same substitution L68Q in all cases reported so far, with it appearing to be a founder mutation in the Icelandic cases, with only one sporadic case from a non-Icelandic individual.; to: Comment on list classification: Demoting from green to amber. Same substitution L68Q in all cases reported so far, with it appearing to be a founder mutation in the Icelandic cases, with only one sporadic case from a non-Icelandic individual. Agreement for the amber rating was confirmed with members of the GMS renal specialist test group.
Amyloidosis v0.18 B2M Eleanor Williams changed review comment from: Comment on list classification: Demoting from green to amber as only 1 family has been reported.; to: Comment on list classification: Demoting from green to amber as only 1 family has been reported. Agreement for the amber rating was confirmed with members of the GMS renal specialist test group.
Amyloidosis v0.18 APOC3 Eleanor Williams changed review comment from: Comment on list classification: Demoting from green to amber as only 1 family reported.; to: Comment on list classification: Demoting from green to amber as only 1 family reported. Agreement for the amber rating was confirmed with members of the GMS renal specialist test group.
Amyloidosis v0.18 CST3 Eleanor Williams changed review comment from: Comment on list classification: Demoting from green to amber. Same substitution L68Q in all cases reported so far, with it appearing to be a founder mutation in the Icelandic cases, with only one sporadic cases from a non-Icelandic individual.; to: Comment on list classification: Demoting from green to amber. Same substitution L68Q in all cases reported so far, with it appearing to be a founder mutation in the Icelandic cases, with only one sporadic case from a non-Icelandic individual.
Amyloidosis v0.18 TTR Eleanor Williams changed review comment from: Associated with Amyloidosis, hereditary, transthyretin-related (#105210) in OMIM. Lots of cases reported in OMIM.; to: Associated with Amyloidosis, hereditary, transthyretin-related (#105210) (AD) in OMIM. Lots of cases reported in OMIM.
Amyloidosis v0.18 GSN Eleanor Williams commented on gene: GSN: OMIM reports that Maury, 1993 (PMID: 8395367, abstract only accessed) reports that 2 2 sibs, the offspring of 2 affected parents, who were by DNA test homozygous for the mutation and showed unusually early onset and severity of the disease , thus the BIALLELIC mutations cause a more SEVERE disease form mode of inheritiance seems appropriate.
Amyloidosis v0.18 APOC2 Eleanor Williams commented on gene: APOC2: Checked that the variants are heterozygous in the two reported cases with amyloidosis (PMID: 30197986 and 27297947). Hyperlipoproteinemia, type Ib (#207750) is reported at autosomal recessive inheritance in OMIM.
Amyloidosis v0.18 APOC2 Eleanor Williams commented on gene: APOC2: Added the missense tag
Amyloidosis v0.18 APOC2 Eleanor Williams Tag missense tag was added to gene: APOC2.
Amyloidosis v0.18 B2M Eleanor Williams Phenotypes for gene: B2M were changed from 105200 to ?Amyloidosis, familial visceral 105200
Amyloidosis v0.17 LYZ Eleanor Williams Phenotypes for gene: LYZ were changed from 105200 to Amyloidosis, renal 105200
Amyloidosis v0.16 GSN Eleanor Williams Phenotypes for gene: GSN were changed from 105120 to Amyloidosis, Finnish type 105120
Amyloidosis v0.15 FGA Eleanor Williams Phenotypes for gene: FGA were changed from 105200 to Amyloidosis, familial visceral 105200
Amyloidosis v0.14 APOA1 Eleanor Williams Phenotypes for gene: APOA1 were changed from 105200 to Amyloidosis, 3 or more types 105200
Amyloidosis v0.13 CST3 Eleanor Williams Phenotypes for gene: CST3 were changed from 105150 to Cerebral amyloid angiopathy 105150
Amyloidosis v0.12 CST3 Eleanor Williams Publications for gene: CST3 were set to 2900981
Amyloidosis v0.11 CST3 Eleanor Williams Classified gene: CST3 as Amber List (moderate evidence)
Amyloidosis v0.11 CST3 Eleanor Williams Added comment: Comment on list classification: Demoting from green to amber. Same substitution L68Q in all cases reported so far, with it appearing to be a founder mutation in the Icelandic cases, with only one sporadic cases from a non-Icelandic individual.
Amyloidosis v0.11 CST3 Eleanor Williams Gene: cst3 has been classified as Amber List (Moderate Evidence).
Amyloidosis v0.10 B2M Eleanor Williams Classified gene: B2M as Amber List (moderate evidence)
Amyloidosis v0.10 B2M Eleanor Williams Added comment: Comment on list classification: Demoting from green to amber as only 1 family has been reported.
Amyloidosis v0.10 B2M Eleanor Williams Gene: b2m has been classified as Amber List (Moderate Evidence).
Amyloidosis v0.9 APOC3 Eleanor Williams Classified gene: APOC3 as Amber List (moderate evidence)
Amyloidosis v0.9 APOC3 Eleanor Williams Added comment: Comment on list classification: Demoting from green to amber as only 1 family reported.
Amyloidosis v0.9 APOC3 Eleanor Williams Gene: apoc3 has been classified as Amber List (Moderate Evidence).
Amyloidosis v0.8 Eleanor Williams List of related panels changed from to R204
Amyloidosis v0.7 TTR Eleanor Williams commented on gene: TTR: Associated with Amyloidosis, hereditary, transthyretin-related (#105210) in OMIM. Lots of cases reported in OMIM.
Amyloidosis v0.7 LYZ Eleanor Williams commented on gene: LYZ: Associated with Amyloidosis, renal (#105200) in OMIM.

PMID: 21988333 - Sattianayagam et al 2012 - 16 Caucasian patients from 8 families with all with Lysozyme amyloidosis, except for asymptomatic patient. 12 patients were heterozygous for a mutation in the lysozyme gene that encodes the D67H variant, 2 cases carried the W64R variant and 1 case each carried the I56T and D67G variants.
Amyloidosis v0.7 GSN Eleanor Williams commented on gene: GSN: Associated with Amyloidosis, Finnish type (#105120) in OMIM

PMID: 25342098 - Rowczenio et al - report the clinical features in 10 patients with hereditary gelsolin (AGel) amyloidosis associated with the p.D214N mutation. Two patients, from the same kindred presented with proteinuria; eight subjects had a characteristic AGel amyloidosis phenotype including cranial neuropathy and/or corneal lattice dystrophy.

PMID: 24601799 - Efebera et al 2014 - report a novel gelsolin variant in a 62-year-old man with nephrotic range proteinuria. DNA sequencing revealed the novel gelsolin mutation (c.633C > A) encoding p.N211K protein variant. 4 of 13 asymptomatic family members were found to be heterozygous for the p.N211K mutation, three of whom had proteinuria of varying degree including one who proceeded to renal biopsy and was confirmed to have renal amyloidosis.

PMID: 22938848 - Sethi et al 2013 - report a 75-year-old woman who presented with progressive kidney failure. Kidney biopsy showed amyloidosis of undetermined type. Sequencing of the gelsolin gene revealed a previously undescribed sequence variant, a guanine to adenine substitution at nucleotide 580 of the coding sequence, corresponding to a predicted glycine to arginine mutation at amino acid 194.
Amyloidosis v0.7 FGA Eleanor Williams commented on gene: FGA: Associated with Amyloidosis, familial visceral (#105200) in OMIM.

PMID: 29142973 - Rowczenio et al 2016 - 6 patients presented with proteinuria, hypertension, and/or lower limb edema. A novel FGA gene mutation was identified in each case: 2 frameshift mutations F521Sfs*27 and G519Efs*30 and 4 single base substitutions G555F, E526K, E524K, R554H. In 5 patients amyloid deposits were found only within the glomeruli. In 1 patient light-chain amyloid deposits were found.

PMID: 23551149 - Haidinger et al 2013 - large Spanish family with chronic kidney disease with late-onset gross proteinuria. Renal biopsies from 2 members revealed almost complete obliteration of the mesangial glomerular architecture, although kidney function was only moderately impaired. In these 2 living members, they identified the AFib R554L mutation.

PMID: 19073821 - Gillmore et al 2009 - describe 71 patients with fibrinogen amyloidosis, who were prospectively studied at the UK National Amyloidosis Centre. Direct sequencing of the FGA gene showed that 64 patients were heterozygous for the previously reported single base substitution that altered the codon at position 526 of the mature protein from that for glutamic acid to valine. 2 English patients were heterozygous for the previously reported fibrinogen mutation encoding a single base substitution that altered the codon at position 554 from arginine to leucine. 4 novel amyloidogenic fibrinogen mutations were discovered in Chinese, German and Afro-Caribbean patients.
Amyloidosis v0.7 CST3 Eleanor Williams commented on gene: CST3: Associated with Cerebral amyloid angiopathy (#105150) in PubMed

PMID: 2900981 - Palsdottir et al 1988 - abstract only accessed - 8 families with Hereditary cystatin C amyloid angiopathy and a mutation in the codon for leucine at position 68. The mutation affects a Alu I restriction site and from this it has been found that the mutation is transmitted only in affected members of the families.

PMID: 3495457 - Abrahamson et al 1987 - 1 case - report that the deposited fragment from a patient with hereditary cerebral hemorrhage with amyloidosis had a L68Q substitution.

PMID: 1352269 - Abrahamson et al 1992 - 4 HCCAA patients of four different families were analyzed by nucleotide sequencing; the HCCAA-causing mutation in all families was found to be a single T----A substitution in the codon for amino acid residue 68 of cystatin C.

PMID: 3673496 - Jensson et al 1987 - abstract only accessed - but OMIM report that they found abnormal cystatin C protein sequences in the amyloid protein deposited in patients with Icelandic-type amyloidosis. Abnormalities included absence of 10 amino acids from the amino terminal and an amino acid substitution at position 58, which corresponded to position 68 in cystatin C.

PMID: 7482672 - Graffagnino et al 1995 - report a case of sporadic Cerebral amyloid angiopathy (CAA) with intracerebral hemorrhage (ICH) in an elderly Croatian man with a mutation in cystatin C identical to that found in Icelandic hereditary cerebral hemorrhage with amyloidosis.

Same substitution L68Q in all cases reported so far, with it appearing to be a founder mutation in the Icelandic cases, with only one sporadic cases from a non-Icelandic individual.
Amyloidosis v0.7 B2M Eleanor Williams changed review comment from: Provisionally associated with ?Amyloidosis, familial visceral (#105200) in OMIM.

PMID: 22693999 - Valleix et al 2012 - report a French family with 4 members who had progressive bowel dysfunction with extensive visceral amyloid deposits composed of β2-microglobulin. All the members of this family had normal circulating concentrations of β2-microglobulin and normal renal function. A heterozygous mutation in the B2M gene was found in each of the affected family members c.286G→A, Asp76Asn. The 3 unaffected family members tested were all wild type. The Asp76Asn β2-microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions.; to: Provisionally associated with ?Amyloidosis, familial visceral (#105200) in OMIM.

PMID: 22693999 - Valleix et al 2012 - report a French family with 4 members who had progressive bowel dysfunction with extensive visceral amyloid deposits composed of β2-microglobulin. All the members of this family had normal circulating concentrations of β2-microglobulin and normal renal function. A heterozygous mutation in the B2M gene was found in each of the affected family members c.286G→A, Asp76Asn. The 3 unaffected family members tested were all wild type. The Asp76Asn β2-microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions.

A PubMed search did not reveal any further cases.
Amyloidosis v0.7 APOC3 Eleanor Williams commented on gene: APOC3: Associated with Apolipoprotein C-III deficiency (#614028) only in OMIM.

PMID: 26790392 - Valleix et al 2016 - report a French family with severe renal amyloidosis and hypotriglyceridemia, both caused by a novel D25V apoC-III variant. The D25V apoC-III variant was only found in family members affected with amyloidosis, hypotriglyceridemia and reduced apoC-III levels, and not in healthy normotriglycemic family members.

A PubMed search with APOC3 or Apolipoprotein C-III and amyloidosis did not find any further cases.
Amyloidosis v0.7 APOC2 Eleanor Williams changed review comment from: Associated with Hyperlipoproteinemia, type Ib (#207750) in OMIM.

PMID: 30197986 - Sethi et al 2018 - report 5 older adults (mean 71.6 years at diagnosis) presented with nephrotic-range proteinuria. All renal biopsy specimens showed massive mesangial nodules composed of weakly eosinophilic, periodic acid-Schiff negative, Congo red-positive amyloid deposits. APOC2 p.Lys41Thr mutant protein was found by mass spectrometry in amyloid deposits of all patients. DNA sequencing in 1 patient confirmed the presence of the mutation.

PMID: 27297947 - Nasr et al 2017 - report an initial patient and then 7 others with kidney involvement and with Apo-CII-rich amyloid deposits. DNA sequencing of the APOC2 gene in the initial patient and one of her children detected a heterozygous c.206A→T transition, causing an E69V missense mutation. They also detected the mutant peptide in the proband's renal amyloid deposits.

Only 2 patients sequenced but in the Sethi et al paper the mutant protein was found in 4 more patients.; to: Associated with Hyperlipoproteinemia, type Ib (#207750) in OMIM.

PMID: 30197986 - Sethi et al 2018 - report 5 older adults (mean 71.6 years at diagnosis) presented with nephrotic-range proteinuria. All renal biopsy specimens showed massive mesangial nodules composed of weakly eosinophilic, periodic acid-Schiff negative, Congo red-positive amyloid deposits. APOC2 p.Lys41Thr mutant protein was found by mass spectrometry in amyloid deposits of all patients. DNA sequencing in 1 patient confirmed the presence of the mutation.

PMID: 27297947 - Nasr et al 2017 - report an initial patient and then 7 others with kidney involvement and with Apo-CII-rich amyloid deposits. DNA sequencing of the APOC2 gene in the initial patient and one of her children detected a heterozygous c.206A→T transition, causing an E69V missense mutation. They also detected the mutant peptide in the proband's renal amyloid deposits.

PMID: 27840752 - Lohani et al 2016 - 61-year-old female presenting with renal failure and nephrotic syndrome. No sequencing but laser microdissection and liquid chromatography mass spectrometry detected high levels of apolipoprotein C-II.

Only 2 patients sequenced but in the Sethi et al paper the mutant protein was found in 4 more patients.
Amyloidosis v0.7 APOC2 Eleanor Williams changed review comment from: Not associated with a relevant phenotype in OMIM

PMID: 30197986 - Sethi et al 2018 - report 5 older adults (mean 71.6 years at diagnosis) presented with nephrotic-range proteinuria. All renal biopsy specimens showed massive mesangial nodules composed of weakly eosinophilic, periodic acid-Schiff negative, Congo red-positive amyloid deposits. APOC2 p.Lys41Thr mutant protein was found by mass spectrometry in amyloid deposits of all patients. DNA sequencing in 1 patient confirmed the presence of the mutation.

PMID: 27297947 - Nasr et al 2017 - report an initial patient and then 7 others with kidney involvement and with Apo-CII-rich amyloid deposits. DNA sequencing of the APOC2 gene in the initial patient and one of her children detected a heterozygous c.206A→T transition, causing an E69V missense mutation. They also detected the mutant peptide in the proband's renal amyloid deposits.

Only 2 patients sequenced but in the Sethi et al paper the mutant protein was found in 4 more patients.; to: Associated with Hyperlipoproteinemia, type Ib (#207750) in OMIM.

PMID: 30197986 - Sethi et al 2018 - report 5 older adults (mean 71.6 years at diagnosis) presented with nephrotic-range proteinuria. All renal biopsy specimens showed massive mesangial nodules composed of weakly eosinophilic, periodic acid-Schiff negative, Congo red-positive amyloid deposits. APOC2 p.Lys41Thr mutant protein was found by mass spectrometry in amyloid deposits of all patients. DNA sequencing in 1 patient confirmed the presence of the mutation.

PMID: 27297947 - Nasr et al 2017 - report an initial patient and then 7 others with kidney involvement and with Apo-CII-rich amyloid deposits. DNA sequencing of the APOC2 gene in the initial patient and one of her children detected a heterozygous c.206A→T transition, causing an E69V missense mutation. They also detected the mutant peptide in the proband's renal amyloid deposits.

Only 2 patients sequenced but in the Sethi et al paper the mutant protein was found in 4 more patients.
Amyloidosis v0.7 APOC2 Eleanor Williams commented on gene: APOC2: Not associated with a relevant phenotype in OMIM

PMID: 30197986 - Sethi et al 2018 - report 5 older adults (mean 71.6 years at diagnosis) presented with nephrotic-range proteinuria. All renal biopsy specimens showed massive mesangial nodules composed of weakly eosinophilic, periodic acid-Schiff negative, Congo red-positive amyloid deposits. APOC2 p.Lys41Thr mutant protein was found by mass spectrometry in amyloid deposits of all patients. DNA sequencing in 1 patient confirmed the presence of the mutation.

PMID: 27297947 - Nasr et al 2017 - report an initial patient and then 7 others with kidney involvement and with Apo-CII-rich amyloid deposits. DNA sequencing of the APOC2 gene in the initial patient and one of her children detected a heterozygous c.206A→T transition, causing an E69V missense mutation. They also detected the mutant peptide in the proband's renal amyloid deposits.

Only 2 patients sequenced but in the Sethi et al paper the mutant protein was found in 4 more patients.
Amyloidosis v0.7 APOA2 Eleanor Williams commented on gene: APOA2: Not associated with a relevant phenotype in OMIM but publications support association

4 cases reported:

PMID: 29270531 - Prokaeva et al 2017 - report a family with renal amyloidosis associated with a novel stop codon mutation in APOA2 and the apoA-II variant, 78Leuext21
PMID: 12787390 - Yazaki et al 2003 - a Caucasian man with progressive renal dysfunction found to have amyloidosis. DNA sequencing of the apoAII gene in the proband showed a T to C transition at the first position of the stop codon indicating replacement of the stop codon by l-arginine (Arg) at residue 78. DNA from other family members was not available.
PMID: 11401442 - Benson et al 2001 - report a family with hereditary renal amyloidosis. Sequence analysis of the apoAII gene of affected individuals showed heterozygosity for a single base substitution in the apoAII stop codon. The mutation results in extension of translation to the next in-frame stop codon 60 nucleotides downstream and is predicted to give a 21-residue C-terminal extension of the apoAII protein identical to that found in the amyloid.
PMID: 11703582 - Yazaki et al 2001 - Caucasian male with proteinuria and renal biopsy revealed amyloid deposition in glomeruli. DNA analysis revealed heterozygosity for a G to C transversion at the second position of the stop-codon of apoA-II gene, suggesting a stop to serine substitution at codon 78. Western blot analysis and amino acid sequence analysis of the patient's plasma apoA-II showed both normal apoA-II and variant apoA-II with a 21-amino acid residue extension at the C-terminus.
Amyloidosis v0.7 APOA1 Eleanor Williams commented on gene: APOA1: Associated with Amyloidosis, 3 or more types (#105200) in OMIM.
More than 3 cases reported.
Amyloidosis v0.7 B2M Eleanor Williams commented on gene: B2M: Provisionally associated with ?Amyloidosis, familial visceral (#105200) in OMIM.

PMID: 22693999 - Valleix et al 2012 - report a French family with 4 members who had progressive bowel dysfunction with extensive visceral amyloid deposits composed of β2-microglobulin. All the members of this family had normal circulating concentrations of β2-microglobulin and normal renal function. A heterozygous mutation in the B2M gene was found in each of the affected family members c.286G→A, Asp76Asn. The 3 unaffected family members tested were all wild type. The Asp76Asn β2-microglobulin variant was thermodynamically unstable and remarkably fibrillogenic in vitro under physiological conditions.
Amyloidosis v0.7 TTR Ellen McDonagh Phenotypes for gene: TTR were changed from 105210 to Amyloidosis, hereditary, transthyretin-related 105210
Amyloidosis v0.6 TTR Ellen McDonagh Publications for gene: TTR were set to 30328212; 14640030
Amyloidosis v0.5 TTR Ellen McDonagh reviewed gene: TTR: Rating: ; Mode of pathogenicity: None; Publications: 30878017, 31131842, 31118583, 31111153, 30120737; Phenotypes: Amyloidosis, hereditary, transthyretin-related 105210; Mode of inheritance: None
Amyloidosis v0.5 TTR Ellen McDonagh Tag treatable tag was added to gene: TTR.
Amyloidosis v0.4 TTR Eleanor Williams reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: 30328212, 14640030; Phenotypes: 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Amyloidosis v0.4 LYZ Eleanor Williams reviewed gene: LYZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 21988333; Phenotypes: 105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Amyloidosis v0.4 GSN Eleanor Williams reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 25342098, 24601799, 22938848; Phenotypes: 105120; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Amyloidosis v0.4 FGA Eleanor Williams reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 29142973, 23551149, 19073821; Phenotypes: 105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Amyloidosis v0.4 CST3 Eleanor Williams reviewed gene: CST3: Rating: GREEN; Mode of pathogenicity: ; Publications: 2900981; Phenotypes: 105150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Amyloidosis v0.4 B2M Eleanor Williams reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693999; Phenotypes: 105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Amyloidosis v0.4 APOC3 Eleanor Williams reviewed gene: APOC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26790392; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Amyloidosis v0.4 APOC2 Eleanor Williams reviewed gene: APOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30197986, 27297947; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Amyloidosis v0.4 APOA2 Eleanor Williams reviewed gene: APOA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29270531, 12787390, 11401442, 11703582; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Amyloidosis v0.4 APOA1 Eleanor Williams reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21820994, 16925563, 27240838; Phenotypes: 105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Amyloidosis v0.3 TTR Eleanor Williams gene: TTR was added
gene: TTR was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TTR were set to 30328212; 14640030
Phenotypes for gene: TTR were set to 105210
Amyloidosis v0.3 LYZ Eleanor Williams gene: LYZ was added
gene: LYZ was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LYZ were set to 21988333
Phenotypes for gene: LYZ were set to 105200
Amyloidosis v0.3 GSN Eleanor Williams gene: GSN was added
gene: GSN was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GSN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GSN were set to 24601799; 25342098; 22938848
Phenotypes for gene: GSN were set to 105120
Amyloidosis v0.3 FGA Eleanor Williams gene: FGA was added
gene: FGA was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGA were set to 19073821; 29142973; 23551149
Phenotypes for gene: FGA were set to 105200
Amyloidosis v0.3 CST3 Eleanor Williams gene: CST3 was added
gene: CST3 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CST3 were set to 2900981
Phenotypes for gene: CST3 were set to 105150
Amyloidosis v0.3 B2M Eleanor Williams gene: B2M was added
gene: B2M was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: B2M was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: B2M were set to 22693999
Phenotypes for gene: B2M were set to 105200
Amyloidosis v0.3 APOC3 Eleanor Williams gene: APOC3 was added
gene: APOC3 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APOC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOC3 were set to 26790392
Amyloidosis v0.3 APOC2 Eleanor Williams gene: APOC2 was added
gene: APOC2 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOC2 were set to 30197986; 27297947
Amyloidosis v0.3 APOA2 Eleanor Williams gene: APOA2 was added
gene: APOA2 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APOA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA2 were set to 29270531; 11703582; 12787390; 11401442
Amyloidosis v0.3 APOA1 Eleanor Williams gene: APOA1 was added
gene: APOA1 was added to Amyloidosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA1 were set to 27240838; 21820994; 16925563
Phenotypes for gene: APOA1 were set to 105200
Amyloidosis v0.1 Louise Daugherty Panel name changed from Amyloidosis with no identifiable cause to Amyloidosis
Amyloidosis v0.0 Ellen McDonagh Added Panel Amyloidosis with no identifiable cause
Set panel types to: GMS Rare Disease