Miscellaneous Metabolic Disorders

Gene: SAR1B

Green List (high evidence)

SAR1B (secretion associated Ras related GTPase 1B)
EnsemblGeneIds (GRCh38): ENSG00000152700
EnsemblGeneIds (GRCh37): ENSG00000152700
OMIM: 607690, Gene2Phenotype
SAR1B is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. Well established gene-disease association.
Sources: Expert Review
Created: 6 Feb 2021, 3:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chylomicron retention disease, MIM# 246700

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Chylomicron retention disease, MIM# 246700
OMIM
607690
Clinvar variants
Variants in SAR1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sar1b has been classified as Green List (High Evidence).

6 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sar1b has been classified as Green List (High Evidence).

6 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SAR1B was added gene: SAR1B was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAR1B were set to 12692552 Phenotypes for gene: SAR1B were set to Chylomicron retention disease, MIM# 246700 Review for gene: SAR1B was set to GREEN