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Inborn errors of metabolism

Gene: LFNG

Red List (low evidence)

LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000106003
EnsemblGeneIds (GRCh37): ENSG00000106003
OMIM: 602576, Gene2Phenotype
LFNG is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

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 family
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spondylocostal dysostosis 3, autosomal recessive, 609813

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
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
  • ?Spondylocostal dysostosis 3, autosomal recessive, 609813
  • LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
OMIM
602576
Clinvar variants
Variants in LFNG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LFNG. Source London North GLH was added to LFNG.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

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

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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)