Genomics England
GMS Panels
Panels
Genes and Entities

SAR1B

secretion associated Ras related GTPase 1B
OMIM: 607690
PanelMode of inheritanceDetails
2 panels
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chylomicron retention disease, OMIM:246700
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anderson disease (Inherited hypolipidaemias), CHYLOMICRON RETENTION DISEASE 246700