Childhood onset dystonia, chorea or related movement disorder
Gene: HSD17B10
Comment on list classification: Upgrading from Red to Amber but there is sufficient evidence to promote this gene to Green at the next GMS panel update - choreoathetoid movements and dystonia can be reported features of HSD10 disease (PMID: 12555940; 22132097; 26950678; 27295195; 31654490)Created: 31 Jan 2024, 5:19 p.m. | Last Modified: 31 Jan 2024, 5:20 p.m.
Panel Version: 3.70
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for 2-methyl-3-hydroxybutyrylL-coA dehydrogenase deficiency and for intellectual development disorder syndromic X-linked type 10. Multiple unrelated individuals (at least 8 variants) with supportive functional studies reported in the literature, including some affected female carriers presenting with mild to moderate developmental delay or intellectual disability.
Phenotype in severely affected males comprises developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation.Created: 31 Jan 2024, 4:57 p.m. | Last Modified: 31 Jan 2024, 4:57 p.m.
Panel Version: 3.68
Mode of inheritance
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
Publications
Publications for gene: HSD17B10 were set to 19706438; 22132097; 12696021; 26950678; 27604308; 12872843; 12555940
Gene: hsd17b10 has been classified as Amber List (Moderate Evidence).
Publications for gene: HSD17B10 were set to
Tag Q1_24_promote_green tag was added to gene: HSD17B10.
Mode of inheritance for gene: HSD17B10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease, OMIM:300438
gene: HSD17B10 was added gene: HSD17B10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: HSD17B10 was set to