Ocular coloboma
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
3 reviews
Alice Gardham (Genomics England)
Comment on list classification: Expert recommendation to leave red as low frequency associationCreated: 18 Jan 2017, 11:35 a.m.
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)
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
-
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Other
- Phenotypes
-
- Joubert syndrome-3
- OMIM
- 608894
- Clinvar variants
- Variants in AHI1
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- Ophthalmological ciliopathies
- Skeletal dysplasia
- Renal ciliopathies
- Dystonia, chorea or related movement disorder, childhood onset
- Neurological ciliopathies
- Limb disorders
- Retinal disorders
- Ocular coloboma
- Cystic kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- Structural eye disease
- Rare multisystem ciliopathy disorders
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
6 Feb 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
18 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
1 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
1 Dec 2016, Gel status: 4
Upload gene information
Alice Gardham (Genomics England)AHI1 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory
1 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)AHI1 was added to Ocular colobomapanel. Sources: Other
1 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)AHI1 was created by ellenmcdonagh