Bleeding and Platelet Disorders

Gene: SRC

Green List (high evidence)

SRC (SRC proto-oncogene, non-receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000197122
EnsemblGeneIds (GRCh37): ENSG00000197122
OMIM: 190090, Gene2Phenotype
SRC is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families, and convincing functional data including animal model.
Sources: Expert list
Created: 16 Aug 2020, 5:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopaenia 6, MIM# 616937

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombocytopaenia 6, MIM# 616937
OMIM
190090
Clinvar variants
Variants in SRC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SRC was added gene: SRC was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: SRC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SRC were set to 31204551; 26936507 Phenotypes for gene: SRC were set to Thrombocytopaenia 6, MIM# 616937 Review for gene: SRC was set to GREEN