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  3. SAR1B
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Dyslipidaemia

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established inborn error of lipoprotein metabolism
Sources: Expert list
Created: 20 May 2024, 1:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Chylomicron retention disease, MIM# 246700

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 May 2024, 1:30 a.m.

Panel version: 0.40

Details

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

History Filter Activity

20 May 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

20 May 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

20 May 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SAR1B was added gene: SAR1B was added to Dyslipidaemia. Sources: Expert list Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAR1B were set to 12692552 Phenotypes for gene: SAR1B were set to Chylomicron retention disease, MIM# 246700 Review for gene: SAR1B was set to GREEN gene: SAR1B was marked as current diagnostic