Motor Neurone Disease
Gene: HEXAEnsemblGeneIds (GRCh38): ENSG00000213614
EnsemblGeneIds (GRCh37): ENSG00000213614
OMIM: 606869, Gene2Phenotype
HEXA is in 19 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
In cases with adult onset disease, lower motor neuron disorder has been reported as a presenting feature of the condition. Has been reported as a differential diagnosis for ALS/MND.
Sources: LiteratureCreated: 5 Oct 2020, 4:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800
Publications
Elena Savva (Victorian Clinical Genetics Services)
Many patients have been reported with biallelic missense and minimal residual HEXA enzyme activity (PMID: 31388111)Created: 22 May 2020, 4:51 a.m. | Last Modified: 22 May 2020, 4:51 a.m.
Panel Version: 0.2861
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
[Hex A pseudodeficiency] 272800; GM2-gangliosidosis, several forms 272800; Tay-Sachs disease 272800
Publications
- PMID: 31388111
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800
- OMIM
- 606869
- Clinvar variants
- Variants in HEXA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Motor Neurone Disease
- Macrocephaly_Megalencephaly
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hexa has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hexa has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HEXA was added gene: HEXA was added to Motor Neuron Disease. Sources: Literature Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXA were set to 31995250; 31076878 Phenotypes for gene: HEXA were set to GM2-gangliosidosis, several forms or Tay-Sachs disease MIM#272800 Review for gene: HEXA was set to GREEN