BRIP1

BRCA1 interacting DNA helicase 1
OMIM: 605882, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green BRIP1 in Bone Marrow Failure Level 2: Haematological disorders Version 2.0	2 reviews	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 2.0	1 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 2.0	1 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 2.0	1 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 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green BRIP1 in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 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 Additional findings_Adult Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Fanconi anaemia, complementation group J, MIM# 609054
Green BRIP1 in Homologous_recombination_deficiency_WTS_UMCCR Level 2: Cancer Version 1.0	0 reviews	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 2.0	1 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 2.0	1 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 2.0	2 reviews	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
Red BRIP1 in Prepair 1000+ Level 2: Screening Version 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Fanconi Anaemia, complementation group J, MIM# 609054 Tags for review
Green BRIP1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 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 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Ovarian cancer, MONDO:0008170
Red BRIP1 in Breast Cancer Level 2: Cancer Predisposition Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red ClinGen Phenotypes Hereditary breast carcinoma MONDO:0016419 Tags refuted