IUGR and IGF abnormalities
Gene: ATRIP
ATRIP (ATR interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000164053
EnsemblGeneIds (GRCh37): ENSG00000164053
OMIM: 606605, Gene2Phenotype
ATRIP is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000164053
EnsemblGeneIds (GRCh37): ENSG00000164053
OMIM: 606605, Gene2Phenotype
ATRIP is in 5 panels
3 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
emma baple (Genomics England Curator)
Comment when marking as ready: Only a single caseCreated: 25 Apr 2016, 1:55 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- microcephaly, micrognathia, small ear lobes, dental crowding
- OMIM
- 606605
- Clinvar variants
- Variants in ATRIP
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
25 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
25 Apr 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
25 Oct 2015, Gel status: 0
Added New Source
Philip Murray (University of Manchester)ATRIP was added to IUGR and IGF abnormalitiespanel. Sources: Literature
25 Oct 2015, Gel status: 0
Created
Philip Murray (University of Manchester)ATRIP was created by PhilMurray