Retinal disorders
Gene: BBS10EnsemblGeneIds (GRCh38): ENSG00000179941
EnsemblGeneIds (GRCh37): ENSG00000179941
OMIM: 610148, Gene2Phenotype
BBS10 is in 20 panels
3 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome type 10 (BBS10)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:03 a.m.
Comment on mode of inheritance: Sourced from OMIM and G2P.Created: 15 Mar 2016, 10:56 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Eye Disorders
- Bardet-Biedl syndrome 10, 615987
- OMIM
- 610148
- Clinvar variants
- Variants in BBS10
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Severe early-onset obesity
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: BBS10 were changed from Eye Disorders; Bardet-Biedl syndrome 10 to Eye Disorders; Bardet-Biedl syndrome 10, 615987
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BBS10. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for BBS10 were set to Eye Disorders; Bardet-Biedl syndrome 10
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for BBS10 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)BBS10 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)BBS10 was created by ellenmcdonagh