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
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