Renal Ciliopathies and Nephronophthisis
Gene: ARL6EnsemblGeneIds (GRCh38): ENSG00000113966
EnsemblGeneIds (GRCh37): ENSG00000113966
OMIM: 608845, Gene2Phenotype
ARL6 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families reported and functional data, renal involvement though commonly hypoplasia/structural abnormalities.Created: 25 Jun 2021, 4:46 a.m. | Last Modified: 25 Jun 2021, 4:46 a.m.
Panel Version: 0.153
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 3, MIM# 600151
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- KidGen_CilioNephronop v38.1.0
- Phenotypes
-
- Bardet-Biedl syndrome 3, MIM# 600151
- OMIM
- 608845
- Clinvar variants
- Variants in ARL6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Skeletal dysplasia
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Renal Ciliopathies and Nephronophthisis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Severe early-onset obesity
- Bardet Biedl syndrome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arl6 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ARL6 were changed from to Bardet-Biedl syndrome 3, MIM# 600151
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ARL6 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ARL6 was added gene: ARL6 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: ARL6 was set to Unknown