Pigmentary skin disordersGene: ANAPC1
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 31303264 describes 10 patients from 7 families with Rothmund-Thomson syndrome 1. All affected individuals have Poikiloderma. There is enough evidence to support a gene-disease association. This gene should be rated Green at next review.
Created: 11 Dec 2020, 3:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Gene: anapc1 has been classified as Amber List (Moderate Evidence).
gene: ANAPC1 was added gene: ANAPC1 was added to Pigmentary skin disorders. 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