This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Joubert syndrome 3, MIM#608629
- OMIM
- 608894
- Clinvar variants
- Variants in AHI1
- Penetrance
- None
- Publications
- 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
28 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: AHI1 was added gene: AHI1 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,Expert list Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHI1 were set to 29146704; PubMed: 15322546; 16453322; 15467982 Phenotypes for gene: AHI1 were set to Joubert syndrome 3, MIM#608629