BBS2

Bardet-Biedl syndrome 2
OMIM: 606151, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green BBS2 in Bardet Biedl syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 1.14 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, MIM# 615981
Green BBS2 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.97	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, MIM# 615981 Retinitis pigmentosa 74, MIM# 616562
Green BBS2 in Mendeliome Version 1.4216	3 reviews	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 2, MIM# 615981 Retinitis pigmentosa 74, MIM# 616562
Green BBS2 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.300 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services
Green BBS2 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.48 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, MIM# 615981
Green BBS2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.638	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 2 MONDO:0014432
Green BBS2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.402	1 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 2, 615981
Red BBS2 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.186 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, 615981
Green BBS2 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 0.238 Component of the following Super Panels: Retinal Disorders Superpanel	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Bardet-Biedl syndrome 2 Retinitis pigmentosa 74
Green BBS2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 2, 615981 (3)
Green BBS2 in Additional findings_Paediatric Level 2: Screening Version 0.280	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bardet-Biedl syndrome
Green BBS2 in Fetal anomalies Version 1.522	1 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 2, MIM# 615981
Green BBS2 in Severe early-onset obesity Level 2: Endocrine disorders Version 1.26	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, MIM# 615981
Green BBS2 in Prepair 1000+ Level 2: Screening Version 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 2, MIM# 615981
Red BBS2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.147	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Bardet-Biedl syndrome 2, MIM# 615981
Green BBS2 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 2, MIM#615981