SAR1B

secretion associated Ras related GTPase 1B
OMIM: 607690
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chylomicron retention disease
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anderson disease (Inherited hypolipidaemias), CHYLOMICRON RETENTION DISEASE 246700