Congenital disorders of glycosylation
Gene: G6PC3
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, 1:53 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
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 listCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: G6PC3.
Source Expert Review Green was added to G6PC3. Source NHS GMS was added to G6PC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: G6PC3.
Gene: g6pc3 has been classified as Amber List (Moderate Evidence).
Publications for gene: G6PC3 were set to 19118303; 21385794
Publications for gene: G6PC3 were set to 21385794
Phenotypes for gene: G6PC3 were changed from Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541 to Dursun syndrome OMIM:612541; Neutropenia, severe congenital 4, autosomal recessive OMIM:612541; autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930
gene: G6PC3 was added gene: G6PC3 was added to Congenital disorders of glycosylation. Sources: Expert list Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: G6PC3 were set to 21385794 Phenotypes for gene: G6PC3 were set to Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541 Review for gene: G6PC3 was set to GREEN gene: G6PC3 was marked as current diagnostic