Ophthalmological ciliopathies
Gene: BBS10

BBS10 (Bardet-Biedl syndrome 10)
EnsemblGeneIds (GRCh38): ENSG00000179941
EnsemblGeneIds (GRCh37): ENSG00000179941
OMIM: 610148, Gene2Phenotype
BBS10 is in 20 panels

2 reviews

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

16582908

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:44 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Bardet-Biedl Syndrome" panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene is green on the Bardet-Biedl Syndrome panel (version 1.53).
Created: 4 Aug 2016, 3:46 p.m.

Comment on phenotypes: Bardet‐Biedl syndrome 10
Created: 1 Feb 2016, 10:13 a.m.

Created: 1 Feb 2016, 10:13 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Bardet-Biedl Syndrome" panel version 1.29

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Eligibility statement prior genetic testing
Expert list
Expert Review Green

Phenotypes

Bardet Biedl syndrome 10

OMIM

610148

Clinvar variants

Variants in BBS10

Penetrance

None

Publications

16582908

Panels with this gene

History Filter Activity

8 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: BBS10 was added gene: BBS10 was added to Ophthalmological ciliopathies. Sources: Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BBS10 were set to 16582908 Phenotypes for gene: BBS10 were set to Bardet Biedl syndrome 10

Ophthalmological ciliopathies Gene: BBS10