Ophthalmological ciliopathies
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
Penny Clouston (Oxford)
Positives within our diagnostic patient cohort. Evidence in literature.Created: 15 Mar 2016, 10:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to green expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome-3.Created: 27 Aug 2016, 9:49 a.m.
Relevant phenotype and mode of inheritance was sourced from OMIM.Created: 8 Jan 2016, 11:36 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Eligibility statement prior genetic testing
- Expert list
- Expert Review Green
- Other
- Phenotypes
-
- Joubert syndrome 3
- Joubert syndrome
- Joubert syndrome-3.
- OMIM
- 608894
- Clinvar variants
- Variants in AHI1
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Retinal disorders
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
8 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: AHI1 was added gene: AHI1 was added to Ophthalmological ciliopathies. Sources: Other,Expert Review Green,Expert list,Eligibility statement prior genetic testing Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHI1 were set to Joubert syndrome 3; Joubert syndrome; Joubert syndrome-3.