B9D2

B9 domain containing 2
OMIM: 611951, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green B9D2 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 34, MIM# 614175 Meckel syndrome 10, MIM# 614175
Green B9D2 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.27	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 34, MIM# 614175 Meckel syndrome 10, MIM# 614175
Green B9D2 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Joubert syndrome 34, MIM#614175 Meckel syndrome 10, MIM#614175
Green B9D2 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Joubert syndrome 34, MIM#614175 Meckel syndrome 10, MIM#614175
Amber B9D2 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.22 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber KidGen_CilioNephronop v38.1.0 Phenotypes Meckel syndrome 10, MIM# 614175
Green B9D2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 34, MIM#614175 Meckel syndrome 10, MIM#614175
Red B9D2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert Review Red UKGTN Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory Expert list Victorian Clinical Genetics Services Phenotypes Meckel syndrome 10 614175
Red B9D2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Meckel syndrome
Green B9D2 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609
Red B9D2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Meckel syndrome