Growth failure in early childhood
Gene: ANAPC1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 1:49 p.m. | Last Modified: 3 Mar 2022, 1:49 p.m.
Panel Version: 1.100
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). Affected individuals from families who are compound heterozygous have growth retardation. There is enough evidence to support a gene-disease association. However, this gene should be reviewed at the next panel update to see if this should be rated Green.
Sources: LiteratureCreated: 11 Dec 2020, 4:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Publications
Phenotypes for gene: ANAPC1 were changed from Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 to Rothmund Thomson syndrome type 1, OMIM:618625
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 Growth failure in early childhood. 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 AMBER