Congenital disorders of glycosylation
Gene: B4GALNT1EnsemblGeneIds (GRCh38): ENSG00000135454
EnsemblGeneIds (GRCh37): ENSG00000135454
OMIM: 601873, Gene2Phenotype
B4GALNT1 is in 9 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:14 a.m. | Last Modified: 1 Feb 2023, 9:14 a.m.
Panel Version: 3.4
Sarah Leigh (Genomics England Curator)
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)
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 listCreated: 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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Spastic paraplegia 26, autosomal recessive, OMIM:609195
- Hereditary spastic paraplegia 26, MONDO:0012213
- OMIM
- 601873
- Clinvar variants
- Variants in B4GALNT1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset hereditary spastic paraplegia
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Hereditary neuropathy
- Hereditary spastic paraplegia
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_21_rating was removed from gene: B4GALNT1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to B4GALNT1. Source NHS GMS was added to B4GALNT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive OMIM:609195; hereditary spastic paraplegia 26 MONDO:0012213 to Spastic paraplegia 26, autosomal recessive, OMIM:609195; Hereditary spastic paraplegia 26, MONDO:0012213
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating tag was added to gene: B4GALNT1.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive (MIM #609195) to Spastic paraplegia 26, autosomal recessive OMIM:609195; hereditary spastic paraplegia 26 MONDO:0012213
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: B4GALNT1 was added gene: B4GALNT1 was added to Congenital disorders of glycosylation. Sources: Expert list 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 (MIM #609195) Review for gene: B4GALNT1 was set to GREEN gene: B4GALNT1 was marked as current diagnostic