Pigmentary skin disorders
Gene: ANAPC1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Submitted on behalf of NHS GMS "Promote to green but note difficulties due to pseudogenes - coverage of uniquely mapping reads is ~50% (TWIST exome)."Created: 14 Mar 2022, 6:27 p.m. | Last Modified: 14 Mar 2022, 6:27 p.m.
Panel Version: 1.45
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 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.
Sources: LiteratureCreated: 11 Dec 2020, 3:41 p.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.
Source Expert Review Green was added to ANAPC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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