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| Growth failure in early childhood v3.67 | COG4 | Arina Puzriakova Phenotypes for gene: COG4 were changed from Saul-Wilson syndrome, OMIM:618150; microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 to Saul-Wilson syndrome, OMIM:618150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.100 | COG4 | Ivone Leong Tag for-review was removed from gene: COG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.100 | COG4 | Ivone Leong commented on gene: COG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.99 | COG4 |
Ivone Leong Source Expert Review Green was added to COG4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Growth failure in early childhood v1.24 | COG4 | Ivone Leong Classified gene: COG4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.24 | COG4 | Ivone Leong Gene: cog4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v1.23 | COG4 |
Ivone Leong gene: COG4 was added gene: COG4 was added to Growth failure in early childhood. 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, 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 |
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