Ectodermal dysplasia without a known gene mutation

Gene: ANAPC1

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.
Sources: Literature

Created: 15 Dec 2020, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368

Publications

• 31303264