ALMS1

ALMS1, centrosome and basal body associated protein
OMIM: 606844
PanelMode of inheritanceDetails
10 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM 203800
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALSTROM SYNDROME 203800
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALSTROM SYNDROME
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#203800: Alstrom syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALSTROM SYNDROME, 203800
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom Syndrome, Bardet-Biedl Syndrome, 203800, Alstrom syndrome
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom Syndrome, Bardet-Biedl Syndrome, 203800, Alstrom syndrome
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Alstrom syndrome, 203800
R-numbers: R149
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Truncal obesity (onset in childhood), Alstrom syndrome associated with obesity, Alstrom syndrome, 203800
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom Syndrome, Bardet-Biedl Syndrome, 203800, Alstrom syndrome