Genomics England
GMS Panels
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Genes and Entities

HSD17B10

hydroxysteroid 17-beta dehydrogenase 10
OMIM: 300256
PanelMode of inheritanceDetails
8 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 6.5
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
HSD10 mitochondrial disease, OMIM:300438
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 300220, 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY 300438
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.54
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
HSD10 mitochondrial disease, OMIM:300438
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
HSD10 mitochondrial disease, OMIM:300438
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.13
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
HSD10 mitochondrial disease, OMIM:300438
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.9
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
HSD10 mitochondrial disease, OMIM:300438
Green
in Optic neuropathy
R-numbers: R41
Signed-off version 4.40
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
HSD10 mitochondrial disease, OMIM:300438
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.113
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
HSD10 mitochondrial disease, OMIM:300438