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  2. Cytopenia - NOT Fanconi anaemia
  3. SRC
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Cytopenia - NOT Fanconi anaemia

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)

Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Thrombocytopenia 6; limited evidence but green on R90 so also green for R91; North West GLH:Thrombocytopenia 6; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted
Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Created: 4 Nov 2019, 7:30 p.m.
Last Modified: 4 Nov 2019, 7:30 p.m.
Panel version: 0.135

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert review Green
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • ?Thrombocytopenia 6, 616937
OMIM
190090
Clinvar variants
Variants in SRC
Penetrance
None
Panels with this gene

History Filter Activity

4 Nov 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SRC. Rating Changed from Red List (low evidence) to Green List (high evidence)

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert review Green was added to SRC.

4 Nov 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SRC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes ?Thrombocytopenia 6, 616937 for gene: SRC

4 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SRC was added gene: SRC was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: SRC was set to