Severe microcephaly
Gene: CSNK2A1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
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.Created: 5 May 2021, 3:19 p.m. | Last Modified: 5 May 2021, 3:19 p.m.
Panel Version: 2.133
Microcephaly is a feature of the condition in 8/14 cases with de novo variants.
Sources: Expert listCreated: 4 Sep 2020, 10:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Okur-Chung neurodevelopmental syndrome MIM#617062
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: CSNK2A1.
Source Expert Review Green was added to CSNK2A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: csnk2a1 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: CSNK2A1.
Phenotypes for gene: CSNK2A1 were changed from Okur-Chung neurodevelopmental syndrome MIM#617062 to Okur-Chung neurodevelopmental syndrome, OMIM:617062
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