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Intellectual disability syndromic and non-syndromic

Gene: BRIP1

Amber List (moderate 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)

I don't know

ID reported but not a consistent/predominant feature of the phenotype.
Created: 29 Jan 2020, 10:52 a.m. | Last Modified: 29 Jan 2020, 10:52 a.m.
Panel Version: 0.1771

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group J, MIM# 609054

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Fanconi anaemia, complementation group J, MIM# 609054
OMIM
605882
Clinvar variants
Variants in BRIP1
Penetrance
None
Panels with this gene

History Filter Activity

7 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brip1 has been classified as Amber List (Moderate Evidence).

7 Oct 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Oct 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

7 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brip1 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BRIP1 was added gene: BRIP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BRIP1 was set to Unknown