Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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 9 panels

1 review

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Ataxia is not a reported prominent feature of the condition. Neurological symptoms are secondary to malabsorption.
Created: 12 Sep 2020, 7:45 a.m. | Last Modified: 12 Sep 2020, 7:45 a.m.
Panel Version: 2.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chylomicron retention disease, 246700

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SAR1B was added gene: SAR1B was added to Ataxia and cerebellar anomalies - narrow panel. 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