Ectodermal dysplasia
Gene: ANAPC1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS for SEGLH "Fine to have as green since RTS can have skin and hair abnornalities and syndormic features" Submitted on behalf of NHS GMS for NTGLH "This gene will also provide difficulties due to pseudogenes - coverage of uniquely mapping reads is ~50% (TWIST exome)."Created: 14 Mar 2022, 6:03 p.m. | Last Modified: 14 Mar 2022, 6:03 p.m.
Panel Version: 1.37
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund-Thomson syndrome type 1
Publications
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: LiteratureCreated: 15 Dec 2020, 11:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Publications
Tag for-review was removed from gene: ANAPC1. Tag Q4_21_NHS_review was removed from gene: ANAPC1.
Source Expert Review Green was added to ANAPC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_NHS_review tag was added to gene: ANAPC1.
Gene: anapc1 has been classified as Amber List (Moderate Evidence).
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