Likely inborn error of metabolism

Gene: LFNG

Green List (high evidence)

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

Created: 25 Feb 2025, 9:09 a.m. | Last Modified: 25 Feb 2025, 9:09 a.m.

Panel Version: 7.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.

Created: 5 Oct 2024, 9:14 p.m. | Last Modified: 5 Oct 2024, 9:14 p.m.

Panel Version: 6.17

LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity.

There are more than 10 unrelated cases reported with Spondylocostal dysostosis and with biallelic LFNG variants (either homozygous or compound heterozygous).

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, 9:08 p.m. | Last Modified: 5 Oct 2024, 9:08 p.m.

Panel Version: 6.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813

Publications

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

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

• 16385447