BRIP1

BRCA1 interacting protein C-terminal helicase 1
OMIM: 605882, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green BRIP1 in Bone Marrow Failure Level 2: Haematological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group J, MIM# 609054 Tags treatable
Green BRIP1 in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group J, MIM# 609054 Tags treatable
Green BRIP1 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group J, MIM# 609054 Tags treatable
Green BRIP1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.301	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fanconi anemia, complementation group J (MIM#609054) Tags treatable
Green BRIP1 in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green BRIP1 in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.15 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group J, MIM# 609054 Tags treatable
Amber BRIP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Fanconi anaemia, complementation group J, MIM# 609054
Green BRIP1 in Growth failure Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group J, MIM# 609054
Green BRIP1 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group J, MIM# 609054
No list BRIP1 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Fanconi Anaemia
Green BRIP1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Fanconi anaemia, complementation group J, MIM# 609054 Tags treatable haematological
Green BRIP1 in Ovarian Cancer Level 2: Cancer Predisposition Version 1.1	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Ovarian cancer, MONDO:0008170