AHI1

Abelson helper integration site 1
OMIM: 608894
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME 614615
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 3 608629
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 3, Joubert syndrome, Joubert syndrome-3.
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 3, Joubert syndrome, Joubert syndrome-3.
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 3, Joubert syndrome, Joubert syndrome-3.
R-numbers: R32
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Joubert syndrome 3, 608629
R-numbers: R257
Signed-off version 3.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Joubert syndrome-3 608629