Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary neuropathy NOT PMP22 copy number

Gene: HEXB

Green List (high evidence)

HEXB (hexosaminidase subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000049860
EnsemblGeneIds (GRCh37): ENSG00000049860
OMIM: 606873, Gene2Phenotype
HEXB is in 14 panels

4 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: Neuropathy has been described in Sandhoff 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 HEXB should be promoted to Green at the next GMS panel update.
Created: 13 Dec 2021, 3:26 p.m. | Last Modified: 13 Dec 2021, 3:26 p.m.
Panel Version: 1.73

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

In addition to the comments of Evan Reid, neuropathy in pediatric cases are also reported.
Created: 30 Nov 2021, 9:09 p.m. | Last Modified: 30 Nov 2021, 9:09 p.m.
Panel Version: 1.67

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sandhoff disease; neuropathy; ataxia

Publications

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.
Created: 30 Nov 2021, 1:51 p.m. | Last Modified: 30 Nov 2021, 1:51 p.m.
Panel Version: 1.67

Phenotypes
ALS; motor neuronopathy

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: HEXB.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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

13 Dec 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: HEXB.

13 Dec 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: HEXB were set to 17015493; 20472204; 20798201; 2795083; 31512525; 34856081

13 Dec 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: HEXB were set to PMID: 31512525

13 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

13 Dec 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800

30 Nov 2021, Gel status: 0

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

Evan Reid (University of Cambridge)

gene: HEXB was added gene: HEXB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HEXB were set to PMID: 31512525 Penetrance for gene: HEXB were set to Complete