Adult onset neurodegenerative disorder
Gene: HEXA
Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.Tay-Sachs variant of juvenile-onset GM2-gangliosidosis: Onset occurred with ataxia between ages 2 and 6 years. Thereafter deterioration to decerebrate rigidity took place.adult variants of hexosaminidase A deficiency. A 30-year-old non-Jewish proband in the first family had juvenile amyotrophic lateral sclerosis beginning at age 16 years and evolving to mild dementia, ataxia, and axonal (neuronal) motor-sensory peripheral neuropathy.Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Adult onset rare.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Publications
Variants in this GENE are reported as part of current diagnostic practice
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Phenotypes for gene: HEXA were changed from GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800 to GM2-gangliosidosis, several forms, OMIM:272800; Tay-Sachs disease, OMIM:272800
Source Wessex and West Midlands GLH was added to HEXA.
Publications for gene HEXA were changed from to 28739864; 27033294
Source Yorkshire and North East GLH was added to HEXA.
Source NHS GMS was added to HEXA.
Source London North GLH was added to HEXA.
Louise Daugherty: Comment on phenotypes: amended
Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
gene: HEXA was added gene: HEXA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal