Inherited bleeding disorders
Gene: KDSR
KDSR (3-ketodihydrosphingosine reductase)
EnsemblGeneIds (GRCh38): ENSG00000119537
EnsemblGeneIds (GRCh37): ENSG00000119537
OMIM: 136440, Gene2Phenotype
KDSR is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000119537
EnsemblGeneIds (GRCh37): ENSG00000119537
OMIM: 136440, Gene2Phenotype
KDSR is in 6 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed rating from Grey to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE projectCreated: 9 Aug 2017, 1:28 p.m.
BRIDGE consortium (NIHRBR-RD)
Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, plus observed in the NIHRBR-RD BRIDGE cohort.Created: 9 Aug 2017, 12:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Platelet disorder; Severe Thrombocytopenia with progression to marrow fibrosis at young age
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Platelet disorder
- Severe Thrombocytopenia with progression to marrow fibrosis at young age
- OMIM
- 136440
- Clinvar variants
- Variants in KDSR
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
9 Aug 2017, Gel status: 4
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
9 Aug 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)KDSR was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene
9 Aug 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)KDSR was created by BRIDGE