Cytopenia - NOT Fanconi anaemiaGene: KDSR
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: Thrombocytopenia and erythrokeraderma; skin phenotype can vary but so far seems to have been the presenting symptom; North West GLH: Syndromic, not isolated thrombocytopenia; 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
Source Expert Review Red was added to KDSR.
Source Expert review Red was added to KDSR.
Mode of inheritance for gene KDSR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Erythrokeratodermia variabilis et progressiva 4, 617526 for gene: KDSR
gene: KDSR was added gene: KDSR 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: KDSR was set to