BBS12

Bardet-Biedl syndrome 12
OMIM: 610683, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green BBS12 in Bardet Biedl syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 1.10 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 12, MIM# 615989
Green BBS12 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 12, MIM# 615989
Green BBS12 in Mendeliome Version 1.2302	2 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 12, MIM# 615989
Green BBS12 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.281 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 BBS12 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	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 12, MIM# 615989
Green BBS12 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 12 MONDO:0014440
Green BBS12 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	2 reviews	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 Bardet Biedl syndrome 12, 615989 Polydactyly
Red BBS12 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 Component of the following Super Panels: Ataxia_Superpanel 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 12, 615989
Green BBS12 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 12, 615989 (3)
Green BBS12 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bardet-Biedl syndrome
Green BBS12 in Fetal anomalies Version 1.313	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 12, MIM# 615989
Green BBS12 in Severe early-onset obesity Level 2: Endocrine disorders Version 1.13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 12, MIM# 615989
Green BBS12 in Prepair 1000+ Level 2: Screening Version 1.1566	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 12, 615989 (3)
Red BBS12 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Bardet-Biedl syndrome 12, MIM# 615989
Green BBS12 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bardet-Biedl syndrome 12, 615989 (3)