Congenital disorders of glycosylation
Gene: B4GALNT1
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
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
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
Tag Q2_21_rating was removed from gene: B4GALNT1.
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)
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
Tag Q2_21_rating tag was added to gene: B4GALNT1.
Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).
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
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