Congenital disorders of glycosylation

Gene: LFNG

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 5:41 p.m. | Last Modified: 24 Feb 2025, 5:41 p.m.

Panel Version: 6.10

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, 8:54 p.m. | Last Modified: 5 Oct 2024, 8:54 p.m.

Panel Version: 6.4

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, 8:50 p.m. | Last Modified: 5 Oct 2024, 8:50 p.m.

Panel Version: 6.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813

Publications

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

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Only one variants reported.

Created: 19 Dec 2016, 10:18 a.m.

Red List (low evidence)

Single known patient with Spondylocostal Dysostosis. Biochemical function of the gene and the described mutation are consistent with inclusion of this gene on the list, and other patients could be present.

Created: 13 Dec 2016, 11:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 16385447