| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v2.177 | COG4 | Eleanor Williams Tag for-review was removed from gene: COG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.176 | COG4 | Eleanor Williams commented on gene: COG4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.175 | COG4 |
Eleanor Williams Source Expert Review Green was added to COG4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v2.80 | COG4 | Michael Oldridge reviewed gene: COG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30290151; Phenotypes: Saul-Wilson syndrome, OMIM:618150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.38 | COG4 | Ivone Leong Classified gene: COG4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.38 | COG4 | Ivone Leong Gene: cog4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.37 | COG4 |
Ivone Leong gene: COG4 was added gene: COG4 was added to Skeletal dysplasia. Sources: Literature for-review tags were added to gene: COG4. Mode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COG4 were set to 31949312; 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 AMBER Added comment: 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 suggests that the Saul-Wilson syndrome variant is gain of function. Therefore, this gene should be considered to be Green at the next review. Sources: Literature |
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