Adult onset leukodystrophy
Gene: HEXA
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800
Review and rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.Created: 4 Jul 2019, 4:32 p.m. | Last Modified: 4 Jul 2019, 4:32 p.m.
Panel Version: 0.10
Included all genes listed in clinical cases in Lynch et al 2015 PMID:28334938 and Ayrignac et al. 2015 PMID: 25527826. Included all genes with clear adult onset listed in Vanderver 2017 PMID:27159321 and Ahmed et al. 2017 PMID:24357685. A small number of genes from these resources were omitted, particularly those with limited or single case reports referenced in Ahmed et al, those with a metabolic basis (that could be determined by standard metabolic assays), and recessive diseases where the likelihood of encountering incidental carrier status is far more likely than finding a diagnosis e.g. Cockayne syndrome. Due to variable expressivity and potential later onset of phenotype in hypomorphic cases, peroxisomal biogenesis disorders OMIM phenotypic Series PS214100 and GeneReviews PMID:20301621 included.Created: 4 Jul 2019, 4:06 p.m. | Last Modified: 4 Jul 2019, 4:06 p.m.
Panel Version: 0.9
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800 for gene: HEXA
Publications for gene HEXA were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Source Expert Review Green was added to HEXA. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to HEXA.
gene: HEXA was added gene: HEXA was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: HEXA was set to