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  3. ARL6
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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 20 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

Created: 15 Mar 2019, 1:24 p.m.

Panel version: 0.11

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
268000

Publications

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

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.13

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