B9D1

B9 domain containing 1
OMIM: 614144, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber B9D1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Meckel syndrome 9, MIM# 614209 Joubert syndrome 27, MIM# 617120
Amber B9D1 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.27	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Meckel syndrome 9, MIM# 614209 Joubert syndrome 27, MIM# 617120
Green B9D1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Joubert syndrome 27, MIM#617120 Meckel syndrome 9, MIM#614209
Red B9D1 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 Red Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Joubert syndrome 27, MIM#617120 Meckel syndrome 9, MIM#614209
Red B9D1 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 Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Meckel syndrome 9, OMIM #614209 Joubert syndrome 27, OMIM #617120
Amber B9D1 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 Joubert syndrome 27, MIM#617120 Meckel syndrome 9, MIM#614209
Amber B9D1 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 Amber UKGTN Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Expert list Victorian Clinical Genetics Services Phenotypes Meckel syndrome 9 614209
Amber B9D1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Meckel syndrome 9, MIM# 614209 Joubert syndrome 27, MIM# 617120
Green B9D1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Meckel syndrome 9, MONDO:0013630 Joubert syndrome 27, OMIM:617120 Meckel syndrome 9, OMIM:614209 Joubert syndrome 27, MONDO:0014927
Amber B9D1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Joubert syndrome 27, MIM# 617120 Meckel syndrome 9, MIM# 614209