Optic neuropathy

Gene: HSD17B10

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.

Created: 6 Dec 2024, 12:04 p.m. | Last Modified: 6 Dec 2024, 12:04 p.m.

Panel Version: 4.40

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - optic nerve atrophy with visual loss can be a reported feature of HSD10 disease (PMIDs: 22132097; 26950678; 27295195)

Created: 31 Jan 2024, 5:26 p.m. | Last Modified: 31 Jan 2024, 5:26 p.m.

Panel Version: 4.18

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.
Sources: Literature

Created: 31 Jan 2024, 4:56 p.m.

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

• 19706438
• 22132097
• 12696021
• 26950678
• 27604308
• 12872843
• 12555940