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Skeletal dysplasia

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

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Bardet-Biedl syndrome 3 600151
OMIM
608845
Clinvar variants
Variants in ARL6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARL6 was added gene: ARL6 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert Review Green Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6 were set to 19858128; 15314642; 15258860 Phenotypes for gene: ARL6 were set to Polydactyly; Bardet-Biedl syndrome 3 600151