Rare multisystem ciliopathy disorders
Gene: AHI1EnsemblGeneIds (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
- Other
- Expert Review Green
- Expert list
- Phenotypes
-
- Joubert syndrome
- Joubert syndrome-3.
- Joubert syndrome 3
- OMIM
- 608894
- Clinvar variants
- Variants in AHI1
- Penetrance
- Complete
- 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
Upload gene information
Ellen McDonagh (Genomics England Curator)AHI1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Eligibility statement prior genetic testing
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Added New Source
Ellen McDonagh (Genomics England Curator)AHI1 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for AHI1 were set to Joubert syndrome;Joubert syndrome-3.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for AHI1 were set to Joubert syndrome
Created
Ellen McDonagh (Genomics England Curator)AHI1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)AHI1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list