Miscellaneous Metabolic Disorders
Gene: SAR1BEnsemblGeneIds (GRCh38): ENSG00000152700
EnsemblGeneIds (GRCh37): ENSG00000152700
OMIM: 607690, Gene2Phenotype
SAR1B is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. Well established gene-disease association.
Sources: Expert ReviewCreated: 6 Feb 2021, 3:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chylomicron retention disease, MIM# 246700
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Chylomicron retention disease, MIM# 246700
- OMIM
- 607690
- Clinvar variants
- Variants in SAR1B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sar1b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sar1b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SAR1B was added gene: SAR1B was added to Miscellaneous Metabolic Disorders. Sources: Expert Review 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