Bardet-Biedl Syndrome

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 19 panels

1 review

Beth Hoskins (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
268000

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Bardet‐Biedl syndrome 1, modifier of}
  • Bardet‐Biedl syndrome 3
  • Bardet-Biedl Syndrome
  • 268000
OMIM
608845
Clinvar variants
Variants in ARL6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ARL6 were set to {Bardet‐Biedl syndrome 1, modifier of}; Bardet‐Biedl syndrome 3; Bardet-Biedl Syndrome; 268000

1 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ARL6 were set to PMID: 15258860; 21282186

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

ARL6 was added to Bardet-Biedl Syndrome panel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

ARL6 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

ARL6 was added to Bardet-Biedl Syndrome panel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

ARL6 was added to Bardet-Biedl Syndrome panel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ARL6 was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen