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

2 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Leaving rating as green, but with recommendation of a red rating following GMS review. Ataxia rarely reported and as the expert reviewer notes this is secondary to malabsorption.
Created: 30 Jun 2021, 4:44 p.m. | Last Modified: 30 Jun 2021, 4:44 p.m.
Panel Version: 2.215
Associated only with Chylomicron retention disease #246700 in OMIM.

PMID: 12692552 - Jones et al 2003 - report 8 families with homozygous/compound het variants in SAR1B. The affected individuals had a diagnosis of Chylomicron retention disease (CMRD), Anderson disease or CMRD with the neuromuscular disorder Marinesco–Sjogren syndrome (CMRD-MSS) all of which are inherited disorders of severe fat malabsorption. The patient described in this paper had no ataxia reported. PMID: 3792776, 7601203 (abstract only), 2426307 and 10521380, describe some of the patients and ataxia is not reported. However, the 2 Italian siblings whose phenotype is described in PMID: 10665502 with a Marinesco-Sjogren syndrome diagnosis showed severe cerebellar ataxia with truncal and limb ataxia, Very low Vit E concentrations were noted.

PMID: 17945526 - Charcosset et al 2008 - report 15 new cases of chylomicron retention disease among 8 families from France and Canada. Patients were referred for symptoms of malabsorption syndrome (diarrhea, steatorrhea and failure to thrive). They note that all patients had very low levels of fat soluble vitamin E, but neurological and ophtalmological abnormalities were rarely observed at onset of the disease among them.
Created: 30 Jun 2021, 4:42 p.m. | Last Modified: 30 Jun 2021, 4:42 p.m.
Panel Version: 2.214

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chylomicron retention disease, OMIM:246700

Publications

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

30 Jun 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SAR1B were changed from Chylomicron retention disease to Chylomicron retention disease, OMIM:246700

30 Jun 2021, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SAR1B were set to

30 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

30 Jun 2021, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SAR1B.

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