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| Congenital disorders of glycosylation v3.4 | G6PC3 | Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: G6PC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v3.4 | G6PC3 | Achchuthan Shanmugasundram reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v3.3 | G6PC3 |
Achchuthan Shanmugasundram 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) |
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| Congenital disorders of glycosylation v2.43 | G6PC3 | Sarah Leigh Tag Q2_21_rating tag was added to gene: G6PC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.43 | G6PC3 | Sarah Leigh Classified gene: G6PC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.43 | G6PC3 | 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 v2.43 | G6PC3 | Sarah Leigh Gene: g6pc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.42 | G6PC3 | Sarah Leigh Publications for gene: G6PC3 were set to 19118303; 21385794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.41 | G6PC3 | Sarah Leigh Publications for gene: G6PC3 were set to 21385794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.40 | G6PC3 | Sarah Leigh reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.40 | G6PC3 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.14 | G6PC3 |
Zornitza Stark 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 Added comment: 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 |
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