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Cerebral Palsy
Gene: KANK1

KANK1 (KN motif and ankyrin repeat domains 1)
EnsemblGeneIds (GRCh38): ENSG00000107104
EnsemblGeneIds (GRCh37): ENSG00000107104
OMIM: 607704, Gene2Phenotype
KANK1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One family reported originally with CP and deletion of KANK1; association refuted by larger studies.
Created: 5 Dec 2019, 11:41 a.m. | Last Modified: 5 Dec 2019, 11:41 a.m.

Panel Version: 0.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral palsy, spastic quadriplegic, 2, MIM#612900

Publications

Created: 5 Dec 2019, 11:41 a.m.
Last Modified: 5 Dec 2019, 11:41 a.m.
Panel version: 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Cerebral palsy, spastic quadriplegic, 2, MIM#612900

OMIM

Clinvar variants

Variants in KANK1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kank1 has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KANK1 were changed from to Cerebral palsy, spastic quadriplegic, 2, MIM#612900

5 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KANK1 were set to

5 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KANK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kank1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KANK1 was added gene: KANK1 was added to Cerebral Palsy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KANK1 was set to Unknown