Likely inborn error of metabolism - targeted testing not possible
Gene: LFNG
Confirmed DD-G2P gene for Spondylocostal dysostosis (MIM:609813), which results in abnormal bone development. LFNG encodes a glycosyltransferase that modifies the Notch family of cell-surface receptors to alter Notch signaling and vertebral column development. Only one variant reportedin one familyCreated: 23 Feb 2017, 5:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Spondylocostal dysostosis 3, autosomal recessive, 609813
Publications
Source NHS GMS was added to LFNG. Source London North GLH was added to LFNG.
Sarah Leigh: Associated with phenotype in O
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
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)