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  2. Monogenic short stature
  3. ANAPC1
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Monogenic short stature

Gene: ANAPC1

Green List (high 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)

I don't know

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: Literature
Created: 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

Created: 11 Dec 2020, 4:23 p.m.

Copied from panel: Growth failure in early childhood v3.76

Details

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

History Filter Activity

26 Mar 2024, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: ANAPC1 was added gene: ANAPC1 was added to Monogenic short stature. Sources: Expert Review Green,Literature 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