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| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.15 | COG4 | Zornitza Stark Marked gene: COG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.15 | COG4 | Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.15 | COG4 | Zornitza Stark Classified gene: COG4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.15 | COG4 | Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephalic Primordial Dwarfism and Slender bone dysplasias v0.14 | COG4 |
Zornitza Stark gene: COG4 was added gene: COG4 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Mode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COG4 were set to 30290151 Phenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM:618150; Microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 Mode of pathogenicity for gene: COG4 was set to Other Review for gene: COG4 was set to GREEN Added comment: 14 individuals reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like). All have a recurrent de novo heterozygous missense variant (p.Gly516Arg). GoF suggested. Please note bi-allelic variants cause CDG. Sources: Expert Review |
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