This Panel is marked as Internal
Renal and urinary tract disorders
Gene: AHI1
AHI1 (Abelson helper integration site 1)
EnsemblGeneIds (GRCh38): ENSG00000135541
EnsemblGeneIds (GRCh37): ENSG00000135541
OMIM: 608894, Gene2Phenotype
AHI1 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000135541
EnsemblGeneIds (GRCh37): ENSG00000135541
OMIM: 608894, Gene2Phenotype
AHI1 is in 19 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Joubert gene. Not including syndromic conditions on this panel.Created: 10 May 2016, 9:51 a.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.Created: 22 Oct 2015, 10:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Jouberts syndrome type 3
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- Joubert syndrome-3 608629
- OMIM
- 608894
- Clinvar variants
- Variants in AHI1
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Ocular coloboma
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- 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
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: No current test experience but
20 Dec 2018, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: AHI1
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: AHI1 was added gene: AHI1 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome-3 608629