SAR1B

secretion associated Ras related GTPase 1B
OMIM: 607690
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chylomicron retention disease, OMIM:246700
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anderson disease (Inherited hypolipidaemias), CHYLOMICRON RETENTION DISEASE 246700
R-numbers: R331
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chylomicron retention disease, OMIM:246700