Ectodermal dysplasia

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

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rothmund-Thomson syndrome type 1

Publications

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. 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

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 Q4_21_NHS_review
OMIM
608473
Clinvar variants
Variants in ANAPC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_NHS_review tag was added to gene: ANAPC1.

15 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).

15 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 Ectodermal dysplasia. 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