Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: ARL6

ARL6 (ADP ribosylation factor like GTPase 6)
EnsemblGeneIds (GRCh38): ENSG00000113966
EnsemblGeneIds (GRCh37): ENSG00000113966
OMIM: 608845, Gene2Phenotype
ARL6 is in 14 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two families reported with nonsyndromic retinitis pigmentosa
Created: 25 May 2020, 12:11 a.m. | Last Modified: 25 May 2020, 12:11 a.m.

Panel Version: 0.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 55 MIM#613575

Publications

Created: 25 May 2020, 12:11 a.m.
Last Modified: 25 May 2020, 12:11 a.m.
Panel version: 0.41

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Royal Melbourne Hospital

Phenotypes

Retinitis pigmentosa 55, 613575
Bardet-Biedl syndrome 3, 209900

OMIM

608845

Clinvar variants

Variants in ARL6

Penetrance

None

Panels with this gene

History Filter Activity

25 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arl6 has been classified as Amber List (Moderate Evidence).

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARL6 was added gene: ARL6 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL6 were set to Retinitis pigmentosa 55, 613575; Bardet-Biedl syndrome 3, 209900

Retinitis pigmentosa_Autosomal Recessive/X-linked Gene: ARL6