Skeletal dysplasia

Gene: LFNG

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 6:08 p.m. | Last Modified: 24 Feb 2025, 6:08 p.m.

Panel Version: 7.23

Comment on phenotypes: This gene has been associated with relevant phenotypes in both OMIM (MIM #609813) and Gene2Phenotype (with 'definitive' rating on DD and Skeletal panels).

Created: 5 Oct 2024, 9 p.m. | Last Modified: 5 Oct 2024, 9 p.m.

Panel Version: 6.21

Comment on list classification: There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous). Hence, this gene can be promoted to green rating in the next GMS update.

Created: 5 Oct 2024, 7:31 p.m. | Last Modified: 5 Oct 2024, 7:31 p.m.

Panel Version: 6.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813

Publications

• 16385447
• 29459493
• 30196550
• 30531807
• 33728697
• 34645488
• 37038048
• 38565611

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, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 3, autosomal recessive 609813

Publications

• 16385447
• 30196550

I don't know

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: amber

Created: 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.

Green List (high evidence)

Tier 1

Created: 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