Microcephaly
Gene: ATRIP
ATRIP (ATR interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000164053
EnsemblGeneIds (GRCh37): ENSG00000164053
OMIM: 606605, Gene2Phenotype
ATRIP is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000164053
EnsemblGeneIds (GRCh37): ENSG00000164053
OMIM: 606605, Gene2Phenotype
ATRIP is in 4 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 23144622;
- 1x proband from a consanguineous family
- progressive severe microcephaly (-9 to -10SD)
- cHet for a nonsense and a splice
Sources: LiteratureCreated: 31 Aug 2020, 3:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel Syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Seckel Syndrome
- OMIM
- 606605
- Clinvar variants
- Variants in ATRIP
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
31 Aug 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atrip has been classified as Red List (Low Evidence).
31 Aug 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atrip has been classified as Red List (Low Evidence).
31 Aug 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: ATRIP was added gene: ATRIP was added to Microcephaly. Sources: Literature 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 Seckel Syndrome Penetrance for gene: ATRIP were set to unknown Review for gene: ATRIP was set to RED