Cytopenia - NOT Fanconi anaemia

Gene: STK4

Red List (low evidence)

STK4 (serine/threonine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000101109
EnsemblGeneIds (GRCh37): ENSG00000101109
OMIM: 604965, Gene2Phenotype
STK4 is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low 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 agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: SCID with cardiac defects, not likely to present as isolated neutropenia; North West GLH: Syndromic, not isolated thrombocytopenia (all cell types affected); 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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert review Red
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868
OMIM
604965
Clinvar variants
Variants in STK4
Penetrance
None
Panels with this gene

History Filter Activity

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to STK4.

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert review Red was added to STK4.

4 Nov 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene STK4 was changed from to Unknown Added phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 for gene: STK4

4 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: STK4 was added gene: STK4 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: STK4 was set to