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| Ectodermal dysplasia v1.37 | ANAPC1 |
Catherine Snow Tag for-review was removed from gene: ANAPC1. Tag Q4_21_NHS_review was removed from gene: ANAPC1. |
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| Ectodermal dysplasia v1.37 | ANAPC1 | Catherine Snow commented on gene: ANAPC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.36 | ANAPC1 |
Catherine Snow Source Expert Review Green was added to ANAPC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ectodermal dysplasia v1.28 | ANAPC1 | Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: ANAPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.26 | ANAPC1 | Tom Cullup reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.13 | ANAPC1 | Ivone Leong Classified gene: ANAPC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.13 | ANAPC1 | Ivone Leong Gene: anapc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal dysplasia v1.12 | ANAPC1 |
Ivone Leong gene: ANAPC1 was added gene: ANAPC1 was added to Ectodermal dysplasia. Sources: Literature for-review tags were added to gene: ANAPC1. 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. This gene should be rated Green pending review from GMS. Sources: Literature |
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