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| Congenital disorders of glycosylation v3.4 | SLC37A4 | Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: SLC37A4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v3.4 | SLC37A4 | Achchuthan Shanmugasundram reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v3.3 | SLC37A4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC37A4. Source NHS GMS was added to SLC37A4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital disorders of glycosylation v2.85 | SLC37A4 | Arina Puzriakova Publications for gene: SLC37A4 were set to 32884905 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.84 | SLC37A4 | Arina Puzriakova Classified gene: SLC37A4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.84 | SLC37A4 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Monoallelic variants in SLC37A4 are linked to a congenital disorder of glycosylation in OMIM (MIM# 619525) and G2P (definitive disease confidence). At least 9 individuals from 6 unrelated families have been reported with the same heterozygous variant, c.1267C>T (p.Arg423∗), in SLC37A4. Affected subjects display a metabolic disorder characterised by liver dysfunction, coagulation deficiencies (but no signs of bleeding detected in most), and profound abnormalities in N-glycosylation of serum specific proteins. |
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| Congenital disorders of glycosylation v2.84 | SLC37A4 | Arina Puzriakova Gene: slc37a4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.83 | SLC37A4 | Arina Puzriakova Phenotypes for gene: SLC37A4 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation, type IIw, OMIM:619525 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.82 | SLC37A4 | Arina Puzriakova Tag Q3_22_rating tag was added to gene: SLC37A4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.70 | SLC37A4 | Zornitza Stark edited their review of gene: SLC37A4: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.70 | SLC37A4 | Zornitza Stark edited their review of gene: SLC37A4: Added comment: PMID 33964207: 7 patients from 4 families, additional to the two reported previously, described with the same recurrent c.1267C>T (p.R423*) variant with liver dysfunction multifactorial coagulation deficiency and cardiac issues. Serum samples from affected individuals showed profound accumulation of both high mannose and hybrid type N-glycans. Hepatoma cell-line studies support the pathogenicity of the variant.; Changed publications to: 32884905, 33964207 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.18 | SLC37A4 |
Zornitza Stark gene: SLC37A4 was added gene: SLC37A4 was added to Congenital disorders of glycosylation. Sources: Literature Mode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC37A4 were set to 32884905 Phenotypes for gene: SLC37A4 were set to Congenital disorder of glycosylation Review for gene: SLC37A4 was set to RED Added comment: Bi-allelic LOF variants in this gene cause glycogen storage disorder. Single individual reported with heterozygous de novo variant in this gene. Clinical features included dysmorphic features (low set ears, a broad nose, mandibular micrognathia and facial asymmetry) and hepatopathy. The variant abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter is postulated to lead to a congenital disorder of glycosylation instead of glycogen storage disease. Sources: Literature |
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