1. Panels
  2. Hereditary neuropathy or pain disorder
  3. B4GALNT1
Genes in panel
Prev Next

Hereditary neuropathy or pain disorder

Gene: B4GALNT1

Green List (high evidence)
B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000135454
EnsemblGeneIds (GRCh37): ENSG00000135454
OMIM: 601873, Gene2Phenotype
B4GALNT1 is in 9 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 1:11 p.m. | Last Modified: 26 Sep 2024, 1:11 p.m.
Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 26 Sep 2024, 1:11 p.m.
Last Modified: 26 Sep 2024, 1:11 p.m.
Panel version: 5.16

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

At least five B4GALNT1 variants have been associated with OMIM:609195. This gene should be green on this panel, as the panel scope now includes complex phenotypes.
Created: 13 May 2024, 8:57 a.m. | Last Modified: 13 May 2024, 8:57 a.m.
Panel Version: 4.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 26, autosomal recessive, OMIM:609195

Publications

Created: 13 May 2024, 8:57 a.m.
Last Modified: 13 May 2024, 8:57 a.m.
Panel version: 4.11

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - HSP with neuropathy / Broader phenotype: HSP gene but can be associated with neuropathy.
Created: 6 Dec 2019, 2:02 p.m. | Last Modified: 6 Dec 2019, 2:02 p.m.
Panel Version: 0.30
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 2:01 p.m. | Last Modified: 6 Dec 2019, 2:01 p.m.
Panel Version: 0.30
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.
Created: 11 Jun 2019, 1:40 p.m.

Panel version: 0.30

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
Created: 17 Mar 2024, 9:08 p.m. | Last Modified: 17 Mar 2024, 9:08 p.m.
Panel Version: 3.83
5 families with neuropathy on emg
Created: 6 Jun 2019, 10:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SPG26, Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy

Publications

Created: 6 Jun 2019, 10:52 a.m.

Panel version: 3.83

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy
  • Spastic paraplegia 26, autosomal recessive, 609195
  • SPG26
OMIM
601873
Clinvar variants
Variants in B4GALNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: B4GALNT1. Tag Q2_24_NHS_review was removed from gene: B4GALNT1.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to B4GALNT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 May 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_24_promote_green tag was added to gene: B4GALNT1. Tag Q2_24_NHS_review tag was added to gene: B4GALNT1.

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: B4GALNT1 was added gene: B4GALNT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALNT1 were set to 23746551 Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy; Spastic paraplegia 26, autosomal recessive, 609195; SPG26