GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: LFNG

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Dysostoses with predominant vertebral with and without costal involvement gp of SD. Two cases reported with spondylocostal dysostosis or congenital scoliosis.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 3, autosomal recessive 609813

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS

Phenotypes

Spondylocostal dysostosis 3, autosomal recessive 609813

OMIM

602576

Clinvar variants

Variants in LFNG

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

gene: LFNG was added gene: LFNG was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LFNG were set to Spondylocostal dysostosis 3, autosomal recessive 609813

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: LFNG