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Intellectual disability

Gene: KANK1

Red List (low evidence)

KANK1 (KN motif and ankyrin repeat domains 1)
EnsemblGeneIds (GRCh38): ENSG00000107104
EnsemblGeneIds (GRCh37): ENSG00000107104
OMIM: 607704, Gene2Phenotype
KANK1 is in 5 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Should be grey. Variants in this gene are linked to Cerebral palsy. There is no strong evidence that this gene is linked to Intellectual Disability.
Created: 31 Oct 2017, 10:36 a.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Caroline Wright (Sanger)

Red List (low evidence)

Mechanism: Imprinted
Created: 16 Nov 2015, 11:41 a.m.

Mode of inheritance
Other - please specify in evaluation comments

Phenotypes
CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 (CPSQ2)

Publications

Details

Mode of Inheritance
Other - please specify in evaluation comments
Sources
  • Expert Review Red
Phenotypes
  • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 (CPSQ2)
OMIM
607704
Clinvar variants
Variants in KANK1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

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.

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KANK1 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KANK1 was created by ellenmcdonagh