Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: BRCA2

BRCA2 (BRCA2, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels

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Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

IUIS Classification December 2019

Phenotypes

Fanconi anemia, complementation group D1, OMIM:605724
Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
Bone marrow failure

OMIM

600185

Clinvar variants

Variants in BRCA2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 Apr 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BRCA2 were changed from Fanconi anemia, complementation group D1, 605724; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure; Fanconi Anemia Type D1 to Fanconi anemia, complementation group D1, OMIM:605724; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure

26 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: BRCA2 was added gene: BRCA2 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRCA2 were set to 32086639; 32048120 Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, 605724; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage; Bone marrow failure; Fanconi Anemia Type D1