FANCB

Fanconi anemia complementation group B
OMIM: 300515, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green FANCB in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group B, MIM# 300514
Green FANCB in Chromosome Breakage Disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.19	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group B, MIM# 300514 MONDO:0010351
Green FANCB in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group B (MIM#300514)
Green FANCB in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group B, MIM# 300514 MONDO:0010351
Green FANCB in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Fanconi anemia, complementation group B, MIM# 300514
Green FANCB 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	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group B, MIM# 300514 MONDO:0010351
Amber FANCB 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 anemia, complementation group B, MIM# 300514
Red FANCB in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes NA
Green FANCB in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group B, 300514 (3)
Green FANCB in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Fanconi anaemia
Green FANCB in Growth failure Version 1.76	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group B, MIM# 300514
Green FANCB in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group B, MIM# 300514 MONDO:0010351
Green FANCB in IBMDx study Version 0.25	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group B, MIM# 300514
Green FANCB in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group B, 300514 (3)
Green FANCB in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Fanconi anaemia, complementation group B, MIM# 300514 Tags treatable haematological
Green FANCB in Prepair 500+ Level 2: Screening Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Fanconi anemia, complementation group B, 300514 (3)