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Prepair 1000+

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

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

SAR1B, HGNC:10535. From OMIM; Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. Also referred to as Anderson disease. Causes fat-laden enterocytes in small bowel and intestines. Additional features can include diarrhoea, growth restriction, peripheral neuropathy and reduced vitamin E serum deficiency, and cognitive impairment (mild).
Early onset, yes, more than 5 unrelated families reported. From Mendeliome entry; Well established gene-disease association.
Created: 4 Feb 2025, 3:15 a.m. | Last Modified: 4 Feb 2025, 3:15 a.m.
Panel Version: 1.1397

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
  • Mackenzie's Mission
Phenotypes
  • Chylomicron retention disease MIM#246700
OMIM
607690
Clinvar variants
Variants in SAR1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, 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).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SAR1B were changed from Chylomicron retention disease, 246700 (3) to Chylomicron retention disease MIM#246700

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SAR1B were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SAR1B was added gene: SAR1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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, 246700 (3)