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| Congenital disorders of glycosylation v3.4 | EOGT | Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: EOGT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v3.4 | EOGT | Achchuthan Shanmugasundram reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v3.3 | EOGT |
Achchuthan Shanmugasundram Source Expert Review Green was added to EOGT. Source NHS GMS was added to EOGT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital disorders of glycosylation v2.37 | EOGT | Sarah Leigh Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, MIM# 615297 to Adams-Oliver syndrome 4 OMIM:615297; Adams-Oliver syndrome 4 MONDO:0014124 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.36 | EOGT | Sarah Leigh Tag Q2_21_rating tag was added to gene: EOGT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.36 | EOGT | Sarah Leigh edited their review of gene: EOGT: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in five unrelated cases.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.36 | EOGT | Sarah Leigh Classified gene: EOGT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.36 | EOGT | 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 v2.36 | EOGT | Sarah Leigh Gene: eogt has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v2.14 | EOGT |
Zornitza Stark gene: EOGT was added gene: EOGT was added to Congenital disorders of glycosylation. Sources: Expert list Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EOGT were set to 23522784; 31368252; 29924900 Phenotypes for gene: EOGT were set to Adams-Oliver syndrome 4, MIM# 615297 Review for gene: EOGT was set to GREEN gene: EOGT was marked as current diagnostic Added comment: Multiple families reported. EOGT is an O-linked-N-acetylglucosamine (O-GlcNAc) transferase, with modification restricted to the epidermal growth factor (EGF) domain-containing glycoproteins. Sources: Expert list |
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