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Intellectual disability

Gene: CSNK2A1

Green List (high evidence)

CSNK2A1 (casein kinase 2 alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000101266
EnsemblGeneIds (GRCh37): ENSG00000101266
OMIM: 115440, Gene2Phenotype
CSNK2A1 is in 6 panels

4 reviews

Louise Daugherty (Genomics England Curator)

As a result of watchlist tag audit the watchlist tag was removed from CSNK2A1- this is now a green gene with sufficient evidence/review
Created: 13 Jan 2020, 3:35 p.m. | Last Modified: 13 Jan 2020, 3:35 p.m.
Panel Version: 3.0

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : activating
Created: 27 Jul 2017, 5:28 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Mode of pathogenicity
Other

Richard Scott (Genomics England Curator)

Comment on list classification: See review
Created: 27 Feb 2017, 9:44 a.m.

Ellen Thomas (Genomics England Curator)

Green List (high evidence)

Only one paper, but 5 unrelated cases with de novo mutations.
Created: 27 Oct 2016, 8:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Okur-Chung neurodevelopmental syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Okur-Chung neurodevelopmental syndrome
OMIM
115440
Clinvar variants
Variants in CSNK2A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: CSNK2A1.

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CSNK2A1.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

27 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Oct 2016, Gel status: 0

Added New Source

Ellen Thomas (Genomics England Curator)

CSNK2A1 was added to Intellectual disabilitypanel. Sources: Other

27 Oct 2016, Gel status: 0

Created

Ellen Thomas (Genomics England Curator)

CSNK2A1 was created by EllenThomas