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 7 panels

1 review

emma baple (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Multiple independent cases
Created: 8 Feb 2016, 2:25 p.m.
Multiple families now described
Created: 7 Feb 2016, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 26, autosomal recessive
OMIM
601873
Clinvar variants
Variants in B4GALNT1
Penetrance
Complete
Publications
  • Boukhris et al. (2013)
Panels with this gene

History Filter Activity

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene B4GALNT1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene B4GALNT1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene B4GALNT1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene B4GALNT1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene B4GALNT1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

B4GALNT1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

B4GALNT1 was added to Hereditary spastic paraplegiapanel. Sources: Radboud University Medical Center, Nijmegen,Expert list