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Hyperthyroidism v2.7 TTR Arina Puzriakova Classified gene: TTR as Amber List (moderate evidence)
Hyperthyroidism v2.7 TTR Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green 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 (added 'for-review' tag).
Hyperthyroidism v2.7 TTR Arina Puzriakova Gene: ttr has been classified as Amber List (Moderate Evidence).
Hyperthyroidism v2.6 TTR Arina Puzriakova Tag for-review tag was added to gene: TTR.
Hyperthyroidism v2.6 TRU-TCA1-1 Eleanor Williams Tag ensembl_ids_known_missing tag was added to gene: TRU-TCA1-1.
Hyperthyroidism v2.6 TRU-TCA1-1 Eleanor Williams commented on gene: TRU-TCA1-1
Hyperthyroidism v2.6 TTR Ivone Leong Classified gene: TTR as Green List (high evidence)
Hyperthyroidism v2.6 TTR Ivone Leong Added comment: Comment on list classification: Based on expert review by David Halsall (Cambridge University Hospitals Trust), there is enough evidence to support a gene-disease association for TTR. Therefore this gene has been given Green status.
Hyperthyroidism v2.6 TTR Ivone Leong Gene: ttr has been classified as Green List (High Evidence).
Hyperthyroidism v2.5 TTR Ivone Leong Phenotypes for gene: TTR were changed from # 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH to [Dystransthyretinemic hyperthyroxinemia], 145680; DTTRH
Hyperthyroidism v2.4 TTR Ivone Leong Publications for gene: TTR were set to PMID: 31590893; 26522458
Hyperthyroidism v2.3 TTR david halsall gene: TTR was added
gene: TTR was added to Hyperthyroidism. Sources: Literature
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TTR were set to PMID: 31590893; 26522458
Phenotypes for gene: TTR were set to # 145680 HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH
Penetrance for gene: TTR were set to unknown
Mode of pathogenicity for gene: TTR was set to Other
Review for gene: TTR was set to GREEN
Added comment: Specific gain of function sequence variants in TTE can cause method dependent factitious increases in serum free thyroxine when measured by commercial competive immunoassay methods. V30M, S77Y, I84S, V122I have been reported.
These varients need to be considered separately from loss of function at the locus which is associated with an amyloidogenic phenotype (familial transthyretin amyloidosis).
Sources: Literature
Hyperthyroidism v2.3 Sarah Leigh Panel version has been signed off
Hyperthyroidism v2.0 Ivone Leong promoted panel to version 2.0
Hyperthyroidism v1.9 Ivone Leong List of related panels changed from Resistance to thyroid hormone to Resistance to thyroid hormone; R182
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Hyperthyroidism v1.8 ALB Ivone Leong reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27834068, 24646103, 8064810, 29163366; Phenotypes: ; Mode of inheritance:
Hyperthyroidism v1.8 TSHR Ivone Leong reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hyperthyroidism v1.8 TSHR krishna chatterjee reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital, nonautoimmune hyperthyroidism; Mode of inheritance:
Hyperthyroidism v1.8 THRA krishna chatterjee reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Resistance to Thyroid Hormone alpha; Mode of inheritance:
Hyperthyroidism v1.8 THRB krishna chatterjee reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Resistance to Thyroid Hormone beta; Mode of inheritance:
Hyperthyroidism v1.8 SECISBP2 krishna chatterjee reviewed gene: SECISBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Selenoprotein deficiency; Mode of inheritance:
Hyperthyroidism v1.8 SLC16A2 krishna chatterjee reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Allan Herndon Dudley Syndrome; Mode of inheritance:
Hyperthyroidism v1.8 ALB krishna chatterjee reviewed gene: ALB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial dysalbuminaemic hyperthyroxinaemia; Mode of inheritance:
Hyperthyroidism v1.7 TSHR Ivone Leong gene: TSHR was added
gene: TSHR was added to Hyperthyroidism. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: TSHR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSHR were set to Congenital, nonautoimmune hyperthyroidism; Hyperthyroidism, nonautoimmune, 609152
Hyperthyroidism v1.7 THRA Ivone Leong Source Expert list was added to THRA.
Hyperthyroidism v1.7 THRB Ivone Leong Source Expert list was added to THRB.
Hyperthyroidism v1.7 SECISBP2 Ivone Leong Source Expert list was added to SECISBP2.
Hyperthyroidism v1.7 SLC16A2 Ivone Leong Source Expert list was added to SLC16A2.
Hyperthyroidism v1.7 ALB Ivone Leong gene: ALB was added
gene: ALB was added to Hyperthyroidism. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ALB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ALB were set to 29163366; 8064810; 24646103; 27834068
Phenotypes for gene: ALB were set to Familial dysalbuminaemic hyperthyroxinaemia; [Dysalbuminemic hyperthyroxinemia], 615999
Hyperthyroidism v1.5 Ellen McDonagh Panel name changed from Resistance to thyroid hormone to Hyperthyroidism
List of related panels changed from to Resistance to thyroid hormone
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Hyperthyroidism SLC16A2 Ellen McDonagh commented on gene: SLC16A2
Hyperthyroidism THRB Ellen McDonagh commented on gene: THRB
Hyperthyroidism THRA Ellen McDonagh commented on gene: THRA
Hyperthyroidism Louise Daugherty promoted panel to version 1
Hyperthyroidism TRU-TCA1-1 Louise Daugherty marked TRU-TCA1-1 as ready
Hyperthyroidism THRB Louise Daugherty marked THRB as ready
Hyperthyroidism THRA Louise Daugherty marked THRA as ready
Hyperthyroidism SLC16A2 Louise Daugherty marked SLC16A2 as ready
Hyperthyroidism SECISBP2 Louise Daugherty marked SECISBP2 as ready
Hyperthyroidism TRU-TCA1-1 Louise Daugherty classified TRU-TCA1-1 as red
Hyperthyroidism THRA Louise Daugherty classified THRA as green
Hyperthyroidism SECISBP2 Louise Daugherty classified SECISBP2 as green
Hyperthyroidism TRU-TCA1-1 Louise Daugherty edited their review of TRU-TCA1-1
Hyperthyroidism SLC16A2 Louise Daugherty reviewed SLC16A2
Hyperthyroidism THRB Louise Daugherty reviewed THRB
Hyperthyroidism THRA Louise Daugherty edited their review of THRA
Hyperthyroidism SECISBP2 Louise Daugherty edited their review of SECISBP2
Hyperthyroidism THRA Louise Daugherty commented on THRA
Hyperthyroidism SECISBP2 Louise Daugherty commented on SECISBP2
Hyperthyroidism TRU-TCA1-1 Louise Daugherty commented on TRU-TCA1-1
Hyperthyroidism TRU-TCA1-1 Louise Daugherty edited their review of TRU-TCA1-1
Hyperthyroidism TRU-TCA1-1 Louise Daugherty commented on TRU-TCA1-1
Hyperthyroidism TRU-TCA1-1 Louise Daugherty added TRU-TCA1-1 to panel
Hyperthyroidism TRU-TCA1-1 Louise Daugherty reviewed TRU-TCA1-1