Monogenic short stature

Gene: COG4

I don't know

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

Created: 3 Mar 2022, 1:49 p.m. | Last Modified: 3 Mar 2022, 1:49 p.m.

Panel Version: 1.100

This gene is associated with a phenotype in OMIM and Gene2Phenotype. This gene was added to the Cataracts panel by Zornitza Stark (Australian Genomics).

"Saul-Wilson syndrome (AD): 14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like) All have a recurrent de novo heterozygous missense variant (p.Gly516Arg). Please note bi-allelic variants cause CDG. Sources: Expert list
Zornitza Stark (Australian Genomics), 7 Jul 2020"

PMID: 30290151, many of the affected patients also have short stature and the authors suggest that the Saul-Wilson syndrome variant is gain of function. After consulting the Genomics England Clinical Team, it was suggested that this gene should be added to this panel for the short stature phenotype. However, the GMS specialist group should review whether the short stature is likely associated with the underlying skeletal findings.

Therefore, this gene has been given an Amber rating until further review from the GMS specialist group to see if the phenotype is appropriate for this panel.
Sources: Literature

Created: 21 Dec 2020, 10:20 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Saul-Wilson syndrome, OMIM:618150; microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407

Publications

• 31949312
• 30290151

Mode of pathogenicity
Other