BBS10

Bardet-Biedl syndrome 10
OMIM: 610148, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Red BBS10 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.4

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green BBS10 in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 1.7

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Bardet-Biedl syndrome 10
  • obesity

Red BBS10 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.7

review Not set
Sources
  • Emory Genetics Laboratory

No list BBS10 in Limb disorders


Version 1.5

review Not set
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly

No list BBS10 in Ductal plate malformation


Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome 10 (615987)

Green BBS10 in Bardet Biedl syndrome


Version 0.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Other
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 10, 615987

Red BBS10 in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.44

review Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease

Green BBS10 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.139

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Bardet-Biedl syndrome 10

Red BBS10 in End-stage renal disease - childhood onset

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.63

review Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease

Red BBS10 in GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2


Version 0.4

review Not set
Sources
  • Expert Review Red
  • London North GLH

Red BBS10 in Structural eye disease


Version 0.75

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome10, 615987
  • Eye Disorders

Red BBS10 in Primary ciliary disorders

Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.17

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies

Red BBS10 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.163

review Not set
Sources
  • Emory Genetics Laboratory

Red BBS10 in Renal and urinary tract disorders


Version 1.12

review Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease

Red BBS10 in Unexplained paediatric onset end-stage renal disease


Version 0.16

review Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease

Green BBS10 in Fetal anomalies


Version 0.284

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 10

Green BBS10 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.86

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet‐Biedl syndrome 10

Green BBS10 in DDG2P


Version 1.66

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • BARDET-BIEDL SYNDROME TYPE 10 209900

Green BBS10 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.874

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bardet-Biedl syndrome 10, 209900
  • BARDET-BIEDL SYNDROME TYPE 10 (BBS10)