Pigmentary skin disorders

Gene: ANAPC1

Amber List (moderate evidence)

ANAPC1 (anaphase promoting complex subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000153107
EnsemblGeneIds (GRCh37): ENSG00000153107
OMIM: 608473, Gene2Phenotype
ANAPC1 is in 9 panels

1 review

Ivone Leong (Genomics England Curator)

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 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: Literature
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Tags
for-review
OMIM
608473
Clinvar variants
Variants in ANAPC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: anapc1 has been classified as Amber List (Moderate Evidence).

11 Dec 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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