Genes in panel

Inborn errors of metabolism

Gene: B4GALNT1

Amber List (moderate evidence)

B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000135454
EnsemblGeneIds (GRCh37): ENSG00000135454
OMIM: 601873, Gene2Phenotype
B4GALNT1 is in 10 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 8 Feb 2021, 1:14 p.m. | Last Modified: 8 Feb 2021, 1:14 p.m.
Panel Version: 2.35
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least eight variants reported in at least eight unrelated cases.
Created: 8 Feb 2021, 1:13 p.m. | Last Modified: 8 Feb 2021, 1:13 p.m.
Panel Version: 2.34

Zornitza Stark (Australian Genomics)

Green List (high evidence)

8 families described in total. The B4GALNT1 gene encodes beta-1,4-N-acetylgalactosaminyl transferase-1 (EC 2.4.1.92), an enzyme involved in the biosynthesis of complex gangliosides (G), which are mono- (M), di- (D), and tri- (T) sialic acid-containing glycosphingolipids generated by sequential glycosylations. (OMIM). 5 families with different homozygous variants described with complex hereditary spastic paraplegia (PMID: 23746551). Another 3 families with homozygous variants and progressive weakness and spasticity were described in PMID:24103911.
Sources: Expert list
Created: 22 Jul 2020, 7:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 26, autosomal recessive (MIM #609195)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Spastic paraplegia 26, autosomal recessive, OMIM:609195
  • Hereditary spastic paraplegia 26, MONDO:0012213
Tags
Q2_21_rating
OMIM
601873
Clinvar variants
Variants in B4GALNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Aug 2021, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: B4GALNT1 was added gene: B4GALNT1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Q2_21_rating tags were added to gene: B4GALNT1. Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALNT1 were set to 23746551; 24103911 Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, OMIM:609195; Hereditary spastic paraplegia 26, MONDO:0012213