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Ectodermal dysplasia without a known gene mutation v1.21 ANAPC1 Ivone Leong Classified gene: ANAPC1 as Green List (high evidence)
Ectodermal dysplasia without a known gene mutation v1.21 ANAPC1 Ivone Leong Gene: anapc1 has been classified as Green List (High Evidence).
Ectodermal dysplasia without a known gene mutation v1.20 ANAPC1 Ivone Leong gene: ANAPC1 was added
gene: ANAPC1 was added to Ectodermal dysplasia without a known gene mutation. Sources: Literature
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Review for gene: ANAPC1 was set to GREEN
Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 31303264 describes 10 patients from 7 families with Rothmund-Thomson syndrome. 4 of 7 families are homozygous for the same intronic variant (c.2705-198C-T) and the remaining 3 affected families are compound heterozygous (c.2705-198C-T with another variant in the gene). All affected individuals have poikiloderma. 9/10 patients had sparse or absent hair, eyebrows, or eyelashes. 5/10 had abnormal teeth and 4/10 had abnormal nails. There is enough evidence to support a gene-disease association.
Sources: Literature
Ectodermal dysplasia without a known gene mutation v1.17 TSPEAR Rebecca Foulger commented on gene: TSPEAR: PMID:27736875 (Peled et al., 2016) identified 2 frameshift and 2 missense variants in TSPEAR segregating with ectodermal dysplasias (MIM:618180) in 3 unrelated families (5 patients): two consanguineous families of Arab Moslem origin and one Jewish Ashkenazi family. The novel form of ectodermal dysplasia was characterized by oligodontia, alopecia and facial dysmorphism.
Ectodermal dysplasia without a known gene mutation v1.17 TSPEAR Rebecca Foulger Classified gene: TSPEAR as Green List (high evidence)
Ectodermal dysplasia without a known gene mutation v1.17 TSPEAR Rebecca Foulger Added comment: Comment on list classification: Set rating to Green: Gene added and rated Green by Tom Cullup (GOSH) on the 'Ectodermal dysplasia' panel. Sufficient cases (3 unrelated families from 2 ethnicities) in PMID:27736875 for diagnostic-grade rating.
Ectodermal dysplasia without a known gene mutation v1.17 TSPEAR Rebecca Foulger Gene: tspear has been classified as Green List (High Evidence).
Ectodermal dysplasia without a known gene mutation v1.16 TSPEAR Rebecca Foulger gene: TSPEAR was added
gene: TSPEAR was added to Ectodermal dysplasia without a known gene mutation. Sources: Expert list,Literature
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSPEAR were set to 27736875
Phenotypes for gene: TSPEAR were set to Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Added comment: TSPEAR was added to the 'Ectodermal dysplasia' panel and rated Green byTom Cullup (GOSH). TSPEAR is also therefore appropriate for this 'Ectodermal dysplasia without a known gene mutation' panel.
Sources: Expert list, Literature
Ectodermal dysplasia without a known gene mutation KREMEN1 Rebecca Foulger classified KREMEN1 as red
Ectodermal dysplasia without a known gene mutation KREMEN1 Rebecca Foulger added KREMEN1 to panel
Ectodermal dysplasia without a known gene mutation KREMEN1 Rebecca Foulger reviewed KREMEN1
Ectodermal dysplasia without a known gene mutation RMRP Ellen McDonagh commented on RMRP
Ectodermal dysplasia without a known gene mutation PVRL4 Louise Daugherty commented on PVRL4
Ectodermal dysplasia without a known gene mutation PVRL1 Ellen McDonagh commented on PVRL1
Ectodermal dysplasia without a known gene mutation Sarah Leigh promoted panel to version 1
Ectodermal dysplasia without a known gene mutation GJB2 Sarah Leigh marked GJB2 as ready
Ectodermal dysplasia without a known gene mutation GJB2 Sarah Leigh classified GJB2 as red
Ectodermal dysplasia without a known gene mutation GJB2 Sarah Leigh commented on GJB2
Ectodermal dysplasia without a known gene mutation NFKBIA Sarah Leigh marked NFKBIA as ready
Ectodermal dysplasia without a known gene mutation NFKBIA Sarah Leigh commented on NFKBIA
Ectodermal dysplasia without a known gene mutation NFKBIA Sarah Leigh classified NFKBIA as green
Ectodermal dysplasia without a known gene mutation RMRP Sarah Leigh marked RMRP as ready
Ectodermal dysplasia without a known gene mutation RMRP Sarah Leigh commented on RMRP
Ectodermal dysplasia without a known gene mutation RMRP Sarah Leigh classified RMRP as green
Ectodermal dysplasia without a known gene mutation PORCN Sarah Leigh marked PORCN as ready
Ectodermal dysplasia without a known gene mutation PORCN Sarah Leigh commented on PORCN
Ectodermal dysplasia without a known gene mutation PORCN Sarah Leigh classified PORCN as green
Ectodermal dysplasia without a known gene mutation NFKB2 Sarah Leigh marked NFKB2 as ready
Ectodermal dysplasia without a known gene mutation NFKB2 Sarah Leigh commented on NFKB2
Ectodermal dysplasia without a known gene mutation NFKB2 Sarah Leigh classified NFKB2 as green
Ectodermal dysplasia without a known gene mutation KRT14 Sarah Leigh marked KRT14 as ready
Ectodermal dysplasia without a known gene mutation KRT14 Sarah Leigh commented on KRT14
Ectodermal dysplasia without a known gene mutation KRT14 Sarah Leigh classified KRT14 as green
Ectodermal dysplasia without a known gene mutation WNT10A Sarah Leigh marked WNT10A as ready
Ectodermal dysplasia without a known gene mutation WNT10A Sarah Leigh commented on WNT10A
Ectodermal dysplasia without a known gene mutation PVRL4 Sarah Leigh marked PVRL4 as ready
Ectodermal dysplasia without a known gene mutation PVRL4 Sarah Leigh classified PVRL4 as green
Ectodermal dysplasia without a known gene mutation PVRL4 Sarah Leigh commented on PVRL4
Ectodermal dysplasia without a known gene mutation PVRL1 Sarah Leigh marked PVRL1 as ready
Ectodermal dysplasia without a known gene mutation PVRL1 Sarah Leigh commented on PVRL1
Ectodermal dysplasia without a known gene mutation PVRL1 Sarah Leigh classified PVRL1 as green
Ectodermal dysplasia without a known gene mutation MSX1 Sarah Leigh marked MSX1 as ready
Ectodermal dysplasia without a known gene mutation MSX1 Sarah Leigh classified MSX1 as green
Ectodermal dysplasia without a known gene mutation MSX1 Sarah Leigh commented on MSX1
Ectodermal dysplasia without a known gene mutation KRT74 Sarah Leigh marked KRT74 as ready
Ectodermal dysplasia without a known gene mutation KRT74 Sarah Leigh commented on KRT74
Ectodermal dysplasia without a known gene mutation WDR35 Sarah Leigh marked WDR35 as ready
Ectodermal dysplasia without a known gene mutation WDR35 Sarah Leigh commented on WDR35