Inherited white matter disorders

Gene: HEXA

Red List (low evidence)

HEXA (hexosaminidase subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000213614
EnsemblGeneIds (GRCh37): ENSG00000213614
OMIM: 606869, Gene2Phenotype
HEXA is in 18 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)

Green List (high evidence)

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

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