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| Severe microcephaly v2.293 | CSNK2A1 | Eleanor Williams Tag Q2_21_rating was removed from gene: CSNK2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.292 | CSNK2A1 | Sarah Leigh commented on gene: CSNK2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.291 | CSNK2A1 |
Eleanor Williams Source Expert Review Green was added to CSNK2A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.133 | CSNK2A1 | Ivone Leong Classified gene: CSNK2A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.133 | CSNK2A1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.133 | CSNK2A1 | Ivone Leong Gene: csnk2a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.132 | CSNK2A1 | Ivone Leong Tag Q2_21_rating tag was added to gene: CSNK2A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.132 | CSNK2A1 | Ivone Leong Phenotypes for gene: CSNK2A1 were changed from Okur-Chung neurodevelopmental syndrome MIM#617062 to Okur-Chung neurodevelopmental syndrome, OMIM:617062 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.20 | CSNK2A1 |
Zornitza Stark gene: CSNK2A1 was added gene: CSNK2A1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CSNK2A1 were set to 29240241 Phenotypes for gene: CSNK2A1 were set to Okur-Chung neurodevelopmental syndrome MIM#617062 Review for gene: CSNK2A1 was set to GREEN gene: CSNK2A1 was marked as current diagnostic Added comment: Microcephaly is a feature of the condition in 8/14 cases with de novo variants. Sources: Expert list |
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