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  3. ARL3
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Retinitis pigmentosa_Autosomal Dominant

Gene: ARL3

Amber List (moderate evidence)
ARL3 (ADP ribosylation factor like GTPase 3)
EnsemblGeneIds (GRCh38): ENSG00000138175
EnsemblGeneIds (GRCh37): ENSG00000138175
OMIM: 604695, Gene2Phenotype
ARL3 is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two unrelated families segregating the same missense variant (Y90C).
Created: 24 May 2020, 11:32 p.m. | Last Modified: 24 May 2020, 11:32 p.m.
Panel Version: 0.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 83 MIM#618173

Publications

Created: 24 May 2020, 11:32 p.m.
Last Modified: 24 May 2020, 11:32 p.m.
Panel version: 0.8

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 83
  • Joubert syndrome 35
OMIM
604695
Clinvar variants
Variants in ARL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arl3 has been classified as Amber List (Moderate Evidence).

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARL3 was added gene: ARL3 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ARL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ARL3 were set to 26936825; 16565502; 26964041; 26814127; 30932721; 30269812 Phenotypes for gene: ARL3 were set to Retinitis pigmentosa 83; Joubert syndrome 35