Intestinal failure or congenital diarrhoea
Gene: SAR1B
SAR1B (secretion associated Ras related GTPase 1B)
EnsemblGeneIds (GRCh38): ENSG00000152700
EnsemblGeneIds (GRCh37): ENSG00000152700
OMIM: 607690, Gene2Phenotype
SAR1B is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000152700
EnsemblGeneIds (GRCh37): ENSG00000152700
OMIM: 607690, Gene2Phenotype
SAR1B is in 9 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Chylomicron retention disease, OMIM:246700
- OMIM
- 607690
- Clinvar variants
- Variants in SAR1B
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Familial hypercholesterolaemia
- Ataxia and cerebellar anomalies - narrow panel
- Intestinal failure or congenital diarrhoea
- Hereditary ataxia
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
8 Mar 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SAR1B was added gene: SAR1B was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAR1B were set to Chylomicron retention disease, OMIM:246700