Activity
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16 actions
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| Congenital disorders of glycosylation v6.10 | LFNG | Arina Puzriakova Tag Q3_24_promote_green was removed from gene: LFNG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.10 | LFNG | Arina Puzriakova reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.9 | LFNG |
Arina Puzriakova Source Expert Review Green was added to LFNG. Source NHS GMS was added to LFNG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital disorders of glycosylation v6.4 | LFNG | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LFNG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.4 | LFNG | Achchuthan Shanmugasundram Classified gene: LFNG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.4 | LFNG | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.4 | LFNG | Achchuthan Shanmugasundram Gene: lfng has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.3 | LFNG | Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from ?Spondylocostal dysostosis 3, autosomal recessive 609813; O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813; O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.2 | LFNG | Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation v6.1 | LFNG |
Achchuthan Shanmugasundram changed review comment from: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity. There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous). This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels); to: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity. There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous). This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels). |
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| Congenital disorders of glycosylation v6.1 | LFNG |
Achchuthan Shanmugasundram commented on gene: LFNG: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity. There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous). This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels) |
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| Congenital disorders of glycosylation v6.1 | LFNG | Achchuthan Shanmugasundram reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16385447, 29459493, 30196550, 30531807, 33728697, 34645488, 37038048, 38565611; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation | LFNG | Sarah Leigh marked LFNG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation | LFNG | Sarah Leigh commented on LFNG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation | LFNG | Sarah Leigh classified LFNG as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital disorders of glycosylation | LFNG | Daniel Ungar reviewed LFNG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||