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  3. ARL6
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Ataxia - paediatric

Gene: ARL6

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families reported with BBS and functional data. Some families reported with isolated RP.
Created: 25 Jun 2021, 4:31 a.m. | Last Modified: 25 Jun 2021, 4:31 a.m.
Panel Version: 0.8112

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 3, MIM# 600151; Retinitis pigmentosa 55, MIM# 613575

Publications

Created: 25 Jun 2021, 4:31 a.m.
Last Modified: 25 Jun 2021, 4:31 a.m.
Panel version: Imported from Mendeliome panel version 0.8112

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a reported feature of condition. Only reported as a common feature of BBS1.
Sources: Expert list
Created: 16 Jan 2020, 4:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 3, 600151

Created: 16 Jan 2020, 4:43 a.m.

Panel version: 0.14

History Filter Activity

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arl6 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARL6 was added gene: ARL6 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL6 were set to Bardet-Biedl syndrome 3, 600151 Review for gene: ARL6 was set to RED