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Intellectual disability syndromic and non-syndromic

Gene: KCNN2

Green List (high evidence)

KCNN2 (potassium calcium-activated channel subfamily N member 2)
EnsemblGeneIds (GRCh38): ENSG00000080709
EnsemblGeneIds (GRCh37): ENSG00000080709
OMIM: 605879, Gene2Phenotype
KCNN2 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

- 11 probands all de novo except for 1 mother-daughter pair.
- a mix of null and missense variants
- 2/11 with microcephaly, 10/11 motor delay, 7/11 language delay (excluding 2 with regression), all with varying degrees of ID, 3/11 seizures, 7/11 movement disorder, 4/11 cerebellar ataxia, 6/11 MRI anomalies

additional variants were noted in 2 patients: 1x cHet for variants in MED12L and 1x de novo TNK2 variant

patch clamp functional studies were also done
Sources: Literature
Created: 1 Feb 2021, 4:50 a.m.

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

Phenotypes
neurodevelopmental movement disorders

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725
OMIM
605879
Clinvar variants
Variants in KCNN2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

31 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNN2 were changed from Neurodevelopmental movement disorders; Developmental Delay; Seizures to Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725

31 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

Gene: kcnn2 has been classified as Green List (High Evidence).

1 Feb 2021, Gel status: 3

Set Phenotypes

Sebastian Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental movement disorders; Developmental Delay; Seizures

1 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Sebastian Lunke (Victorian Clinical Genetics Services)

Gene: kcnn2 has been classified as Green List (High Evidence).

1 Feb 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

gene: KCNN2 was added gene: KCNN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: KCNN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNN2 were set to 33242881 Phenotypes for gene: KCNN2 were set to neurodevelopmental movement disorders Penetrance for gene: KCNN2 were set to unknown Review for gene: KCNN2 was set to GREEN