Congenital disorders of glycosylation
Gene: LFNGComment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Only one variants reported.Created: 19 Dec 2016, 10:18 a.m.
Single known patient with Spondylocostal Dysostosis. Biochemical function of the gene and the described mutation are consistent with inclusion of this gene on the list, and other patients could be present.Created: 13 Dec 2016, 11:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Promoted to V1 19th December 2016
This gene has been classified as Red List (Low Evidence).
Publications for LFNG were set to 16385447
This gene has been classified as Red List (Low Evidence).
LFNG was added to Congenital disorders of glycosylationpanel. Source: UKGTN
LFNG was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
LFNG was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene LFNG was set to BIALLELIC, autosomal or pseudoautosomal
LFNG was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
LFNG was created by sleigh