Ataxia - paediatric
Gene: KCNN2EnsemblGeneIds (GRCh38): ENSG00000080709
EnsemblGeneIds (GRCh37): ENSG00000080709
OMIM: 605879, Gene2Phenotype
KCNN2 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
- 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: LiteratureCreated: 1 Feb 2021, 4:59 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, imprinted status unknown
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KCNN2 were changed from Neurodevelopmental disorder; Ataxia to Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcnn2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental disorder; Ataxia
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: kcnn2 has been classified as Green List (High Evidence).
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 Ataxia - paediatric. 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