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| Congenital disorders of glycosylation v3.4 | B4GALNT1 | Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: B4GALNT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v3.4 | B4GALNT1 | Achchuthan Shanmugasundram reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v3.3 | B4GALNT1 |
Achchuthan Shanmugasundram 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) |
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| Congenital disorders of glycosylation v2.74 | B4GALNT1 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.35 | B4GALNT1 | Sarah Leigh Tag Q2_21_rating tag was added to gene: B4GALNT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.35 | B4GALNT1 | Sarah Leigh Classified gene: B4GALNT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.35 | B4GALNT1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.35 | B4GALNT1 | Sarah Leigh Gene: b4galnt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.34 | B4GALNT1 | Sarah Leigh reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.34 | B4GALNT1 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.14 | B4GALNT1 |
Zornitza Stark 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 Added comment: 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 |
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