Growth failure in early childhood
Gene: ATRIP

ATRIP (ATR interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000164053
EnsemblGeneIds (GRCh37): ENSG00000164053
OMIM: 606605, Gene2Phenotype
ATRIP is in 5 panels

0 reviews

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Microcephalic primordial dwarfism
Microcephaly, micrognathia, small ear lobes, dental crowding

OMIM

606605

Clinvar variants

Variants in ATRIP

Penetrance

None

Publications

23144622

Panels with this gene

History Filter Activity

24 Apr 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATRIP were changed from microcephaly, micrognathia, small ear lobes, dental crowding to Microcephalic primordial dwarfism; Microcephaly, micrognathia, small ear lobes, dental crowding

14 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ATRIP was added gene: ATRIP was added to Growth failure in early childhood. Sources: 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