Bardet Biedl syndrome

Gene: ARL6

Green List (high evidence)

ARL6 (ADP ribosylation factor like GTPase 6)
EnsemblGeneIds (GRCh38): ENSG00000113966
EnsemblGeneIds (GRCh37): ENSG00000113966
OMIM: 608845, Gene2Phenotype
ARL6 is in 22 panels

3 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 3 600151; ?Retinitis pigmentosa 55 613575

Publications

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
268000

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Rated green on the Bardet-Biedl Syndrome version 1 panel.
Created: 4 Aug 2016, 3:38 p.m.

History Filter Activity

15 Mar 2019, Gel status: 4

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ARL6 were changed from ?Retinitis pigmentosa 55, 613575; {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151; Bardet-Biedl syndrome 3, 600151 to ?Retinitis pigmentosa 55, 613575; {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151

15 Mar 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ARL6. Added phenotypes ?Retinitis pigmentosa 55, 613575; Bardet-Biedl syndrome 3, 600151 for gene: ARL6 Publications for gene ARL6 were changed from to 15314642; 15258860

15 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ARL6 was added gene: ARL6 was added to Bardet Biedl syndrome. Sources: Expert Review Green,Other Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL6 were set to {Bardet Biedl syndrome 1, modifier of}, 209900; Bardet Biedl syndrome 3, 600151