Skeletal dysplasia
Gene: LFNG
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocostal dysostosis 3, autosomal recessive 609813
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LFNG; Initial rating suggestion: amberCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Only one variant reported in this phenotype.Created: 12 Jul 2016, 9:34 a.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondylocostal dysostosis 3, autosomal recessive 609813
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Spondylocostal dysostosis 3, autosomal recessive 609813 for gene: LFNG Publications for gene LFNG were changed from to 30196550; 16385447
Source NHS GMS was added to LFNG.
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for LFNG were set to Spondylocostal dysostosis 3, autosomal recessive 609813
Mode of inheritance for LFNG was changed to BIALLELIC, autosomal or pseudoautosomal
LFNG was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
LFNG was created by sleigh
LFNG was added to Unexplained skeletal dysplasiapanel. Sources: