Bleeding and Platelet Disorders
Gene: SRC
SRC (SRC proto-oncogene, non-receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000197122
EnsemblGeneIds (GRCh37): ENSG00000197122
OMIM: 190090, Gene2Phenotype
SRC is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000197122
EnsemblGeneIds (GRCh37): ENSG00000197122
OMIM: 190090, Gene2Phenotype
SRC is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two families, and convincing functional data including animal model.
Sources: Expert listCreated: 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