Monogenic short stature
Gene: BRIP1

BRIP1 (BRCA1 interacting protein C-terminal helicase 1)
EnsemblGeneIds (GRCh38): ENSG00000136492
EnsemblGeneIds (GRCh37): ENSG00000136492
OMIM: 605882, Gene2Phenotype
BRIP1 is in 23 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore added to panel as a Green gene.
Created: 30 May 2019, 9:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
609054 Fanconi anemia, complementation group J; Fanconi anemia, complementation group J, 609054

Publications

Created: 30 May 2019, 9:51 a.m.

Copied from panel: Growth failure in early childhood v3.76

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Fanconi anemia, complementation group J, OMIM:609054

OMIM

605882

Clinvar variants

Variants in BRIP1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: BRIP1 was added gene: BRIP1 was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRIP1 were set to 16116423; 16116424; 16153896; 14630800 Phenotypes for gene: BRIP1 were set to Fanconi anemia, complementation group J, OMIM:609054

Monogenic short stature Gene: BRIP1