Growth failure
Gene: ATRIPEnsemblGeneIds (GRCh38): ENSG00000164053
EnsemblGeneIds (GRCh37): ENSG00000164053
OMIM: 606605, Gene2Phenotype
ATRIP is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported.Created: 16 Aug 2021, 7:30 a.m. | Last Modified: 16 Aug 2021, 7:30 a.m.
Panel Version: 0.156
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Genomics England PanelApp
- Phenotypes
-
- Seckel-like syndrome
- OMIM
- 606605
- Clinvar variants
- Variants in ATRIP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atrip has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATRIP were changed from microcephaly, micrognathia, small ear lobes, dental crowding to Seckel-like syndrome
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATRIP was added gene: ATRIP was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red Mode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATRIP were set to 23144622 Phenotypes for gene: ATRIP were set to microcephaly, micrognathia, small ear lobes, dental crowding