Comment on mode of pathogenicity: PMID: 30290151 suggests that Saul-Wilson syndrome variant is gain of function.
Created: 21 Dec 2020, 9:01 a.m. | Last Modified: 21 Dec 2020, 9:01 a.m.
Panel Version: 2.51
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 21 Dec 2020, 8:59 a.m. | Last Modified: 21 Dec 2020, 8:59 a.m.
Panel Version: 2.50
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
Created: 7 Jul 2020, 9:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Saul-Wilson syndrome, OMIM #618150
Variants in this GENE are reported as part of current diagnostic practice
Mode of pathogenicity for gene: COG4 was changed from None to Other
Tag for-review tag was added to gene: COG4.
Gene: cog4 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: COG4 were changed from Saul-Wilson syndrome, OMIM #618150 to Saul-Wilson syndrome, OMIM:618150; microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407
gene: COG4 was added gene: COG4 was added to Cataracts. Sources: Expert list Mode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COG4 were set to 31949312; 30290151 Phenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM #618150 Review for gene: COG4 was set to GREEN gene: COG4 was marked as current diagnostic