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  3. BRIP1
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Growth failure

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Prenatal and postnatal growth failure is a key feature of FA.
Created: 12 Feb 2021, 9:38 a.m. | Last Modified: 6 Aug 2021, 12:12 a.m.
Panel Version: 0.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group J, MIM# 609054

Created: 12 Feb 2021, 9:38 a.m.
Last Modified: 6 Aug 2021, 12:12 a.m.
Panel version: Imported from Chromosome Breakage Disorders panel version 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group J, MIM# 609054
OMIM
605882
Clinvar variants
Variants in BRIP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2021, 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).

6 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BRIP1 were changed from Fanconi anemia, complementation group J, 609054; 609054 Fanconi anemia, complementation group J to Fanconi anaemia, complementation group J, MIM# 609054

19 Jul 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BRIP1 was added gene: BRIP1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRIP1 were set to 14630800; 16153896; 16116424; 16116423 Phenotypes for gene: BRIP1 were set to Fanconi anemia, complementation group J, 609054; 609054 Fanconi anemia, complementation group J