Inherited white matter disorders
Gene: HEXA
HEXA (hexosaminidase subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000213614
EnsemblGeneIds (GRCh37): ENSG00000213614
OMIM: 606869, Gene2Phenotype
HEXA is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000213614
EnsemblGeneIds (GRCh37): ENSG00000213614
OMIM: 606869, Gene2Phenotype
HEXA is in 19 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:03 p.m.
Zornitza Stark (Australian Genomics)
Tay-Sachs/GM2-gangliosidosis are generally considered part of the leukodystrophies and MRI abnormalities of the white matter are well described in the literature.Created: 24 Jul 2018, 1:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- MIM#272800
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- OMIM
- 606869
- Clinvar variants
- Variants in HEXA
- Penetrance
- None
- Publications
-
- MIM#272800
- Panels with this gene
-
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Tay-Sachs disease
- Structural basal ganglia disorders
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
19 Dec 2018, Gel status: 1
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: hexa has been classified as Red List (Low Evidence).
24 Jul 2018, Gel status: 0
Added New Source
Zornitza Stark (Australian Genomics)HEXA was added to Inherited white matter disorders panel. Sources: Expert Review
24 Jul 2018, Gel status: 0
Created
Zornitza Stark (Australian Genomics)HEXA was created by Zornitza Stark