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  3. LFNG
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Skeletal Dysplasia_Fetal

Gene: LFNG

Green List (high evidence)
LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000106003
EnsemblGeneIds (GRCh37): ENSG00000106003
OMIM: 602576, Gene2Phenotype
LFNG is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity. Two unrelated individuals reported and two mouse models.
Created: 22 Jul 2020, 8:57 a.m. | Last Modified: 22 Jul 2020, 8:59 a.m.
Panel Version: 0.144

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813

Publications

Created: 22 Jul 2020, 8:57 a.m.
Last Modified: 22 Jul 2020, 8:59 a.m.
Panel version: Imported from Fetal anomalies panel version Imported from Congenital Disorders of Glycosylation panel version 0.144

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Spondylocostal dysostosis 3, autosomal recessive, MIM#609813
OMIM
602576
Clinvar variants
Variants in LFNG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: lfng has been classified as Green List (High Evidence).

16 Feb 2024, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: LFNG were changed from to Spondylocostal dysostosis 3, autosomal recessive, MIM#609813

16 Feb 2024, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: LFNG were set to

16 Feb 2024, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: LFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LFNG was added gene: LFNG was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LFNG was set to Unknown