Congenital Disorders of Glycosylation

Gene: SLC37A4

Green List (high evidence)

Green List (high evidence)

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.

Created: 7 Jun 2021, 5:18 a.m. | Last Modified: 7 Jun 2021, 5:18 a.m.

Panel Version: 1.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Congenital disorder of glycosylation

Publications

• 33964207

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

I don't know

Second type II CDG patient reported with de novo recurrent c.1267C>T (p.R423*) variant.

Created: 18 May 2021, 4:51 a.m. | Last Modified: 18 May 2021, 4:51 a.m.

Panel Version: 1.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital disorder of glycosylation type II

Publications

• 33728255

Red List (low evidence)

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

Created: 29 Oct 2020, 9:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital disorder of glycosylation, type IIw 619525

Publications

• 32884905