Ductal plate malformation
Gene: ARL6EnsemblGeneIds (GRCh38): ENSG00000113966
EnsemblGeneIds (GRCh37): ENSG00000113966
OMIM: 608845, Gene2Phenotype
ARL6 is in 20 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- {Bardet-Biedl syndrome 1, modifier of} (209900)
- Bardet-Biedl syndrome 3 (600151)
- Tags
- OMIM
- 608845
- Clinvar variants
- Variants in ARL6
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Severe early-onset obesity
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: ARL6.
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Demoted from red to amber as i
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to ARL6. Rating Changed from Green List (high evidence) to No List (delete)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: arl6 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ARL6 was added gene: ARL6 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL6 were set to {Bardet-Biedl syndrome 1, modifier of} (209900); Bardet-Biedl syndrome 3 (600151)