Optic neuropathy
Gene: HIKESHIComment on list classification: There is sufficient evidence (3 unrelated cases) available now for promoting this gene to green rating at the next GMS review.Created: 4 Aug 2023, 5:48 p.m. | Last Modified: 4 Aug 2023, 5:48 p.m.
Panel Version: 4.10
New paper since last reviewed (PMID: 34111619) - seven additional, previously unreported affected individuals, including one with optic atrophy, and another with optic nerve pallor. Unrelated to each other, both from Ashkenazi Jewish populationCreated: 28 Jul 2023, 2:10 p.m. | Last Modified: 28 Jul 2023, 2:10 p.m.
Panel Version: 4.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating
Publications
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association (only 2 cases with optic atrophy), therefore this gene has been given an Amber rating.Created: 26 May 2021, 3:16 p.m. | Last Modified: 26 May 2021, 3:29 p.m.
Panel Version: 2.41
Comment on publications: PMID: 26545878. 3 unrelated cases (6 individuals), Ashkenazi Jewish families. p.Val54Leu. 4/4 (2 MRI was not reported) delayed myelination and periventricular white matter abnormalities on brain imaging, 5/6 feeding difficulties, 5/6 developmental delay, 5/5 progressively decreasing head circumference percentile (up to -2 SD), 6/6 spasticity, 5/6 increased muscle tone, 1/6 ataxia, 2/6 (same family) optic atrophy, 4/6 nystagmus, 1/6 heart failure, 1/6 perimyocarditis.
PMID: 28000699. Finnish case. Difference variant than what was described in PMID:26545878 (p.Cys4Ser). Diffuse hypomyelination, cystic changes of periventricular white matter, has increased muscle tone, spasticity, ataxia, mild optic atrophy, myopia nystagmus and epilepsy. No feeding difficulties or microcephaly.Created: 26 May 2021, 2:59 p.m. | Last Modified: 26 May 2021, 2:59 p.m.
Panel Version: 1.118
Six children from three unrelated Ashkenazi Jewish families reported, segregating same homozygous variant. Neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. Other features: visual impairment; cardiac failure during acute illness.
Sources: Expert listCreated: 15 Sep 2020, noon
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 13, MIM# 616881
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag watchlist was removed from gene: HIKESHI. Tag Q3_23_promote_green tag was added to gene: HIKESHI. Tag Q3_23_NHS_review tag was added to gene: HIKESHI.
Gene: hikeshi has been classified as Amber List (Moderate Evidence).
Publications for gene: HIKESHI were set to 26545878; 28000699
Tag watchlist tag was added to gene: HIKESHI.
gene: HIKESHI was added gene: HIKESHI was added to Optic neuropathy. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIKESHI were set to 26545878; 28000699 Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, OMIM:616881