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  2. Ataxia - paediatric
  3. SAR1B
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Ataxia - paediatric

Gene: SAR1B

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

2 reviews

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.
Created: 6 Feb 2021, 3:59 a.m. | Last Modified: 6 Feb 2021, 3:59 a.m.
Panel Version: 0.6237

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chylomicron retention disease, MIM# 246700

Publications

Created: 6 Feb 2021, 3:59 a.m.
Last Modified: 6 Feb 2021, 3:59 a.m.
Panel version: Imported from Mendeliome panel version 0.6237

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a reported prominent feature of the condition. Neurological symptoms are secondary to malabsorption.
Sources: Expert list
Created: 16 Jan 2020, 11:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chylomicron retention disease, 246700

Created: 16 Jan 2020, 11:36 p.m.

Panel version: 0.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Chylomicron retention disease, 246700
OMIM
607690
Clinvar variants
Variants in SAR1B
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sar1b has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SAR1B was added gene: SAR1B was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700 Review for gene: SAR1B was set to RED