BBS1

Bardet-Biedl syndrome 1
OMIM: 209901, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green BBS1 in Bardet Biedl syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, MIM# 209900
Green BBS1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, MIM# 209900
Green BBS1 in Mendeliome Version 1.2374	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, MIM# 209900
Green BBS1 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.281 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, MIM# 209900
Green BBS1 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.26 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, MIM# 209900
Green BBS1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 1 MONDO:0008854
Green BBS1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Emory Genetics Laboratory Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Polydactyly Bardet-Biedl syndrome 1 209900
Green BBS1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, 209900
Green BBS1 in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.156 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa
Green BBS1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 1, 209900 (3)
Green BBS1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bardet-Biedl syndrome
Green BBS1 in Fetal anomalies Version 1.314	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1 MONDO:0008854 Bardet-Biedl syndrome 1 OMIM:209900
Green BBS1 in Severe early-onset obesity Level 2: Endocrine disorders Version 1.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1 OMIM:209900 MONDO:0008854
Green BBS1 in Prepair 1000+ Level 2: Screening Version 1.1586	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 1, MIM# 209900
Red BBS1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Bardet-Biedl syndrome 1, MIM# 209900
Green BBS1 in Prepair 500+ Level 2: Screening Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 1, 209900 (3)