Research panel - Severe Paediatric Disorders
Gene: KCNMA1

KCNMA1 (potassium calcium-activated channel subfamily M alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000156113
EnsemblGeneIds (GRCh37): ENSG00000156113
OMIM: 600150, Gene2Phenotype
KCNMA1 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: KCNMA1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cerebellar atrophy, developmental delay, and seizures, 617643 (3) | Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Cerebellar atrophy, developmental delay, and seizures, OMIM:617643
Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446
Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276
Liang-Wang syndrome, OMIM:618729
Liang-Wang syndrome, MONDO:0032886

OMIM

600150

Clinvar variants

Variants in KCNMA1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Dec 2020, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: KCNMA1 were set to 30847515

23 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: KCNMA1 were changed from Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Cerebellar atrophy, developmental delay, and seizures, 617643 to Cerebellar atrophy, developmental delay, and seizures, OMIM:617643; Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446; Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276; Liang-Wang syndrome, OMIM:618729; Liang-Wang syndrome, MONDO:0032886

21 Feb 2020, Gel status: 3