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  3. STAP1
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Dyslipidaemia

Gene: STAP1

Red List (low evidence)
STAP1 (signal transducing adaptor family member 1)
EnsemblGeneIds (GRCh38): ENSG00000035720
EnsemblGeneIds (GRCh37): ENSG00000035720
OMIM: 604298, Gene2Phenotype
STAP1 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

The gene appears to fulfil the criteria for a refuted gene-disease association
Sources: Literature
Created: 27 Apr 2024, 3:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial hypercholesterolemia MONDO:0005439

Publications

Created: 27 Apr 2024, 3:30 a.m.

Panel version: 0.37

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial hypercholesterolemia MONDO:0005439
OMIM
604298
Clinvar variants
Variants in STAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: stap1 has been classified as Red List (Low Evidence).

27 Apr 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: STAP1 was added gene: STAP1 was added to Dyslipidaemia. Sources: Literature Mode of inheritance for gene: STAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAP1 were set to 31809983; 31996024; 32208993 Phenotypes for gene: STAP1 were set to Familial hypercholesterolemia MONDO:0005439 Review for gene: STAP1 was set to RED