Genomics England

BRIP1

BRCA1 interacting protein C-terminal helicase 1

Panel	Mode of inheritance	Details
Filter panels12 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes predisposition to ovarian cancer
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group J, OMIM:609054
Green in Confirmed Fanconi anaemia or Bloom syndrome R-numbers: R229, R258 Signed-off version 2.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group J, OMIM:609054
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group J, OMIM:609054
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group J, OMIM:609054
Green in Inherited ovarian cancer (without breast cancer) R-numbers: R207 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes familial ovarian cancer, MONDO:0016248
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group J, OMIM:609054, Radial ray abnormality
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group J, OMIM:609054
Green in Ovarian cancer pertinent cancer susceptibility Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes familial ovarian cancer, MONDO:0016248
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group J, OMIM:609054
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fanconi anemia, complementation group J, OMIM:609054