Skeletal dysplasia
Gene: ANAPC1EnsemblGeneIds (GRCh38): ENSG00000153107
EnsemblGeneIds (GRCh37): ENSG00000153107
OMIM: 608473, Gene2Phenotype
ANAPC1 is in 9 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 4 May 2024, 3:54 p.m. | Last Modified: 4 May 2024, 4:38 p.m.
Panel Version: 5.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Michael Oldridge (NHS)
seen in multiple families, either homozygous for, or compound heterozygous with, a -198 intronic variant shown to produce a pseudo exon containing a stop codon. While there are separate diagnostic features, patients can have short stature and skeletal abnormalities.Created: 29 Jan 2021, 3:17 p.m. | Last Modified: 29 Jan 2021, 3:17 p.m.
Panel Version: 2.80
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund Thomson syndrome type 1, OMIM:618625
Publications
Ivone Leong (Genomics England Curator)
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). 5/10 affected individuals have skeletal abnormalities; however, the phenotype is weak. Therefore, this gene has been given an Amber rating.
Have tagged with "for-review" so that GMS could review whether this gene is appropriate for the panel or not.
Sources: LiteratureCreated: 15 Dec 2020, 12:02 p.m. | Last Modified: 15 Dec 2020, 1:03 p.m.
Panel Version: 2.36
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 Green
- NHS GMS
- Literature
- Phenotypes
-
- Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
- OMIM
- 608473
- Clinvar variants
- Variants in ANAPC1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag for-review was removed from gene: ANAPC1. Tag to_be_confirmed_NHSE was removed from gene: ANAPC1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to ANAPC1. Source Expert Review Green was added to ANAPC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Eleanor Williams (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: ANAPC1.
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: ANAPC1.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: anapc1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ANAPC1 was added gene: ANAPC1 was added to Skeletal dysplasia. Sources: 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, MONDO:0016368 Review for gene: ANAPC1 was set to AMBER