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  2. Hereditary Spastic Paraplegia - adult onset
  3. B4GALNT1
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Hereditary Spastic Paraplegia - adult onset

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Onset in first or second decades of life.
Sources: Expert list
Created: 17 Apr 2020, 6:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 26, autosomal recessive MIM#609195

Created: 17 Apr 2020, 6:56 a.m.

Panel version: Imported from Hereditary Spastic Paraplegia - paediatric panel version 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 26, autosomal recessive, 609195
OMIM
601873
Clinvar variants
Variants in B4GALNT1
Penetrance
None
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b4galnt1 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: B4GALNT1 was added gene: B4GALNT1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, 609195