BRIP1

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

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green BRIP1 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	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 1.19	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 1.1891	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 1.269	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 1.10 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
Green BRIP1 in Homologous_recombination_deficiency_WTS_UMCCR Level 2: Cancer Version 0.43	review	Unknown	Sources Expert list Expert Review Green Tags umccr
Amber BRIP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Fanconi anaemia, complementation group J, MIM# 609054
Red BRIP1 in CGC_86 Version 0.2	review	Other	Sources CGC_86 Phenotypes Fanconi anemia, complementation group J
Red BRIP1 in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes Fanconi anemia, complementation group J
Red BRIP1 in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Fanconi anemia, complementation group J
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 1.255	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 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Fanconi Anaemia
Green BRIP1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Fanconi anaemia, complementation group J, MIM# 609054 Tags treatable haematological