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Hereditary neuropathy NOT PMP22 copy number

Gene: HEXA

Green List (high evidence)

HEXA (hexosaminidase subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000213614
EnsemblGeneIds (GRCh37): ENSG00000213614
OMIM: 606869, Gene2Phenotype
HEXA is in 19 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 1:08 p.m. | Last Modified: 14 Mar 2022, 1:08 p.m.
Panel Version: 1.88

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Neuronopathy and peripheral neuropathy have been described in Tay-Sachs disease, particularly in adult-onset cases where this can be an initial finding and other symptoms may be more mild. Sufficient unrelated cases of neuropathy due to variants in this gene have been reported in literature (>3). Overall HEXA should be promoted to Green at the next GMS panel update.
Created: 13 Dec 2021, 3:04 p.m. | Last Modified: 13 Dec 2021, 3:04 p.m.
Panel Version: 1.70

Evan Reid (University of Cambridge)

Green List (high evidence)

Both HEXA and HEXB autosomal recessive mutations can be associated with a late onset motor neuropathy, sometimes quite mild and sometimes resembling ALS. We missed diagnosis of a patient with a late onset motor neuropathy as HEXB is not on the neuropathy panel. I would suggest that HEXA and HEXB should both be included on this panel.
Sources: Literature
Created: 30 Nov 2021, 1:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating was removed from gene: HEXA.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to HEXA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Dec 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: HEXA were set to PMID: 28739864; 18642377

13 Dec 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: HEXA.

13 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: hexa has been classified as Amber List (Moderate Evidence).

13 Dec 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HEXA were changed from to Tay-Sachs disease, OMIM:272800; Late-onset Tay-Sachs disease

30 Nov 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance

Evan Reid (University of Cambridge)

gene: HEXA was added gene: HEXA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXA were set to PMID: 28739864; 18642377 Penetrance for gene: HEXA were set to Complete Review for gene: HEXA was set to GREEN