Congenital disorders of glycosylation

Gene: G6PC3

Green List (high evidence)

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

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 8 Feb 2021, 1:53 p.m. | Last Modified: 8 Feb 2021, 1:53 p.m.

Panel Version: 2.43

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least seven variants reported in at least seven cases .

Created: 8 Feb 2021, 1:48 p.m. | Last Modified: 8 Feb 2021, 1:48 p.m.

Panel Version: 2.40

Green List (high evidence)

Multiple families reported. Deficiencies in G6PC3 impair the hydrolysis of glucose-6-phosphate to glucose. Patients’ neutrophils have both truncated and galactose-defective N- and O-glycans. 86 G6PC3 mutations cause severe congenital neutropenia (SCN) 4 (MIM: 612541) and Dursun syndrome (MIM: 612541). 83 The 119 G6PC3-CDG patients identified present with a wide range of immunological clinical manifestations and cellular/biochemical alterations.

4 unrelated families (PMID:21385794), profound hypo-galactosylation of N- and O-glycans. The observed defects in glycosylation merit the designation of congenital disorders of glycosylation (CDGs) to both syndromes.
Sources: Expert list

Created: 22 Jul 2020, 7:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541

Publications

• 21385794

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