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  3. BRIP1
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Microcephaly

Gene: BRIP1

Green List (high evidence)
BRIP1 (BRCA1 interacting protein C-terminal helicase 1)
EnsemblGeneIds (GRCh38): ENSG00000136492
EnsemblGeneIds (GRCh37): ENSG00000136492
OMIM: 605882, Gene2Phenotype
BRIP1 is in 12 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

75% of Fanconi anemia (FA) patients present with microcephaly and BRIP1 contributes to approx 2% of FA diagnosis (gene reviews)
Sources: Literature
Created: 1 Sep 2020, 11:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group J (MIM#609054)

Created: 1 Sep 2020, 11:27 p.m.

Panel version: 0.268

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fanconi anemia, complementation group J (MIM#609054)
Tags
treatable
OMIM
605882
Clinvar variants
Variants in BRIP1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

7 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: BRIP1.

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brip1 has been classified as Green List (High Evidence).

2 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BRIP1 were set to

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brip1 has been classified as Green List (High Evidence).

1 Sep 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: BRIP1 was added gene: BRIP1 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRIP1 were set to Fanconi anemia, complementation group J (MIM#609054) Penetrance for gene: BRIP1 were set to unknown Review for gene: BRIP1 was set to GREEN