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Severe Paediatric Disorders

Gene: HSD17B10

Green List (high evidence)

HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10)
EnsemblGeneIds (GRCh38): ENSG00000072506
EnsemblGeneIds (GRCh37): ENSG00000072506
OMIM: 300256, Gene2Phenotype
HSD17B10 is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: HSD17B10; Recommended initial gene rating: Green List (high evidence); Phenotypes: HSD10 mitochondrial disease, 300438 (3); Mode of inheritance: X-linked dominant
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • HSD10 mitochondrial disease, 300438
OMIM
300256
Clinvar variants
Variants in HSD17B10
Penetrance
None
Publications
Panels with this gene

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