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Prepair 500+

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 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Usually associated with multi-system ciliopathy, ID is usually, though not always, a feature. Note gene is also associated with isolated RP.
Created: 25 Jul 2024, 1:55 a.m. | Last Modified: 25 Jul 2024, 1:56 a.m.
Panel Version: 1.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 3, MIM# 600151

Lauren Rogers (Victorian Clinical Genetics Services)

Multiple families reported with BBS and functional data. Some families reported with isolated RP.
Created: 12 Jul 2024, 6:59 a.m. | Last Modified: 12 Jul 2024, 6:59 a.m.
Panel Version: 1.7

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

Publications

History Filter Activity

24 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arl6 has been classified as Green List (High Evidence).

24 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARL6 were changed from Bardet-Biedl syndrome 3, 600151 (3) to Bardet-Biedl syndrome 3, MIM# 600151

24 Apr 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARL6 were set to

3 Nov 2023, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: ARL6 was added gene: ARL6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green 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 (3)