Genes in panel
STRs in panel
Prev Next

Undiagnosed 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 7 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Many families described
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CHYLOMICRON RETENTION DISEASE 246700

Publications

Sarah Leigh (Genomics England Curator)

Sources
Clinical Genomic Database
Phenotypes
CONDITION: Chylomicron retention disease (Anderson disease) INTERVENTION/RATIONALE: Individuals typically present in infancy with with steatorrhea and failure to thrive, and dietary measures (maintenance of adequate caloric intake on a low-long chain fat diet consisting of polyunsaturated fatty acids, with supplementation of lipid soluble vitamins, including large amounts of vitamin E, and essential fatty acids) can be beneficial
Created: 9 Feb 2017, 3:20 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Anderson disease (Inherited hypolipidaemias)
  • CHYLOMICRON RETENTION DISEASE 246700
Tags
treatable
OMIM
607690
Clinvar variants
Variants in SAR1B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Feb 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SAR1B was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Green Model of inheritance for gene SAR1B was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SAR1B was added to Undiagnosed metabolic disorderspanel. Sources: Literature

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SAR1B was created by sleigh