Inherited bleeding 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 4 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changed from Red to Green. Two cases reported with functional evidence
Created: 20 Sep 2018, 10:35 a.m.
Gain of function reported by NIHRBR-RD
Created: 20 Sep 2018, 10:32 a.m.
New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018. From NIHRBR-RD BRIDGE project, reports a second case with de novo variant plus functional data.
Created: 20 Sep 2018, 10:31 a.m.
Comment on publications: PMID: 26936507 Evidence for one large family over 3 generations with thrombocytopenia-6. A heterozygous missense mutation was found in the SRC gene via exome sequencing which segregated with the disorder in the family. Studies of patient platelets and in vitro transfection studies indicated that the mutation resulted in constitutive activation of the SRC kinase in a dominant manner. These changes were associated with defective megakaryopoiesis and abnormal proplatelet formation.
Created: 23 Feb 2017, 10:57 a.m.

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Thrombocytopenia, Bleeding and myelofibrosis
  • ?Thrombocytopenia 6,616937
  • Platelet disorder
OMIM
190090
Clinvar variants
Variants in SRC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

20 Sep 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SRC were changed from Thrombocytopenia, Bleeding and myelofibrosis; ?Thrombocytopenia 6,616937 to Thrombocytopenia, Bleeding and myelofibrosis; ?Thrombocytopenia 6,616937; Platelet disorder

23 Feb 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SRC were set to Thrombocytopenia, Bleeding and myelofibrosis;?Thrombocytopenia 6,616937

23 Feb 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SRC were set to 26936507

19 Dec 2016, Gel status: 0

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 0

Upload gene information

Louise Daugherty (Genomics England Curator)

SRC was added to Inherited bleeding disorderspanel. Sources: Other

19 Dec 2016, Gel status: 0

clearsources

Louise Daugherty (Genomics England Curator)

SRCAll sources for gene: SRC were removed

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SRC was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SRC was created by ellenmcdonagh