Ductal plate malformation
Gene: ARL13B
ARL13B (ADP ribosylation factor like GTPase 13B)
EnsemblGeneIds (GRCh38): ENSG00000169379
EnsemblGeneIds (GRCh37): ENSG00000169379
OMIM: 608922, Gene2Phenotype
ARL13B is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000169379
EnsemblGeneIds (GRCh37): ENSG00000169379
OMIM: 608922, Gene2Phenotype
ARL13B is in 17 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Joubert syndrome 8 (612291)
- Tags
- OMIM
- 608922
- Clinvar variants
- Variants in ARL13B
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Ophthalmological ciliopathies
- Ocular coloboma
- Cystic kidney disease
- Fetal anomalies
- Structural eye disease
- Renal ciliopathies
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- Retinal disorders
- Neurological ciliopathies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: ARL13B.
30 Nov 2018, Gel status: 0
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Demoted from red to amber as i
12 Nov 2018, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to ARL13B. Rating Changed from Green List (high evidence) to No List (delete)
6 Nov 2018, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ARL13B was added gene: ARL13B was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Expert list,Emory Genetics Laboratory,UKGTN Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL13B were set to Joubert syndrome 8 (612291)