This Panel is marked as Deleted
Renal ciliopathies and nephronophthisis_KidGen_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 Review Green
- Expert list
- Phenotypes
-
- Joubert syndrome 3, MIM#608629
- OMIM
- 608894
- Clinvar variants
- Variants in AHI1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Skeletal dysplasia
- Intellectual disability
- Retinal disorders
- Structural eye disease
- Neurological ciliopathies
- Cystic kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: AHI1 was added gene: AHI1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHI1 were set to 29146704; 16453322; 15467982; PubMed: 15322546 Phenotypes for gene: AHI1 were set to Joubert syndrome 3, MIM#608629