Ectodermal dysplasia

Gene: ANAPC1

The 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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rothmund-Thomson syndrome type 1

Publications

• 31303264

Green List (high evidence)

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

Created: 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

• 31303264