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  2. Childhood onset hereditary spastic paraplegia
  3. B4GALNT1

Childhood onset hereditary spastic paraplegia

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

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Onset in first or second decades of life.
Created: 3 May 2019, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 3 May 2019, 4:34 p.m.

Panel version: 1.73

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.
Created: 28 Apr 2019, 5:14 p.m.

Panel version: 1.74

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Victoria: Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. Exome sequencing of 5 families identified 5 different homozygous mutations. In Sheffields HSP panel
Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 26, autosomal recessive, 609195

Created: 28 Apr 2019, 4:16 p.m.

Panel version: 1.6

Arianna Tucci (Genomics England Curator)

Spastic paraplegia 26, Onset in first or second decades of life
Created: 14 Jan 2019, 4:17 p.m.
Created: 14 Jan 2019, 4:17 p.m.

Panel version: 0.62

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 26, autosomal recessive, 609195
OMIM
601873
Clinvar variants
Variants in B4GALNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: B4GALNT1 were set to 23746551

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to B4GALNT1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to B4GALNT1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to B4GALNT1.

3 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: Spastic paraplegia 26, Onset i

28 Jan 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: B4GALNT1 were set to Boukhris et al. (2013)

28 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive, 609195

19 Dec 2018, Gel status: 4

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

Sarah Leigh (Genomics England Curator)

gene: B4GALNT1 was added gene: B4GALNT1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALNT1 were set to Boukhris et al. (2013) Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive