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Likely inborn error of metabolism v7.12 LFNG Sarah Leigh Tag Q3_24_promote_green was removed from gene: LFNG.
Likely inborn error of metabolism v7.12 LFNG Sarah Leigh reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v7.12 LFNG Sarah Leigh Source Expert Review Green was added to LFNG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v6.17 LFNG Achchuthan Shanmugasundram Classified gene: LFNG as Amber List (moderate evidence)
Likely inborn error of metabolism v6.17 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.
Likely inborn error of metabolism v6.17 LFNG Achchuthan Shanmugasundram Gene: lfng has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v6.16 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); ?Spondylocostal dysostosis 3, autosomal recessive 609813; ?Spondylocostal dysostosis 3, autosomal recessive, 609813; LFNG-CDG (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)
Likely inborn error of metabolism v6.15 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447; 29459493; 30196550; 30531807; 33728697; 34645488; 37038048; 38565611
Likely inborn error of metabolism v6.15 LFNG Achchuthan Shanmugasundram Publications for gene: LFNG were set to 16385447
Likely inborn error of metabolism v6.14 LFNG Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LFNG.
Likely inborn error of metabolism v6.14 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
Likely inborn error of metabolism v1.47 LFNG Ivone Leong Source NHS GMS was added to LFNG.
Source London North GLH was added to LFNG.
Likely inborn error of metabolism v0.4 LFNG Ellen McDonagh Added phenotypes O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); ?Spondylocostal dysostosis 3, autosomal recessive 609813 for gene: LFNG
Publications for gene LFNG were changed from 27604308 to 16385447
Likely inborn error of metabolism v0.4 LFNG Ellen McDonagh gene: LFNG was added
gene: LFNG was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LFNG were set to 27604308
Phenotypes for gene: LFNG were set to O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); ?Spondylocostal dysostosis 3, autosomal recessive, 609813; LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)