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Retinal disorders

Gene: BBS4

Green List (high evidence)

BBS4 (Bardet-Biedl syndrome 4)
EnsemblGeneIds (GRCh38): ENSG00000140463
EnsemblGeneIds (GRCh37): ENSG00000140463
OMIM: 600374, Gene2Phenotype
BBS4 is in 25 panels

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

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, 8:04 a.m.
Comment on mode of inheritance: Source: G2P and OMIM.
Created: 16 Mar 2016, 3:47 p.m.

History Filter Activity

19 Nov 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: BBS4 were changed from Eye Disorders; Bardet-Biedl syndrome 4 to Eye Disorders; Bardet-Biedl syndrome 4, 615982

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to BBS4. Rating Changed from Green List (high evidence) to Green List (high evidence)

21 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Mar 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BBS4 were set to Eye Disorders; Bardet-Biedl syndrome 4

16 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for BBS4 was changed to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

BBS4 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BBS4 was created by ellenmcdonagh