Malformations of cortical development
Gene: CSNK2A1Comment on list classification: Three individuals reported by Okur et al., 2016 (PMID: 27048600) displayed cortical abnormalities which meets the threshold for a Green rating. However it should be noted that this is not a common finding and has not been described since the initial report.Created: 8 Sep 2021, 1:30 p.m. | Last Modified: 8 Sep 2021, 1:30 p.m.
Panel Version: 2.70
Only two of the reported individuals have cortical malformations, one with pachygyria and another with simplified gyral pattern.Created: 27 Aug 2020, 10:24 a.m. | Last Modified: 27 Aug 2020, 10:24 a.m.
Panel Version: 2.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Okur-Chung neurodevelopmental syndrome (MIM#617062)
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
617062
Publications
Gene: csnk2a1 has been classified as Green List (High Evidence).
Publications for gene: CSNK2A1 were set to 27048600
Phenotypes for gene: CSNK2A1 were changed from 617062 to Okur-Chung neurodevelopmental syndrome, OMIM:617062
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
CSNK2A1 was created by richardhywel
CSNK2A1 was added to Malformations of cortical developmentpanel. Sources: Literature