Recurrent episodic apnoea
Gene: PRRT2EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 13 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been set to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:43 p.m. | Last Modified: 1 Feb 2023, 2:43 p.m.
Panel Version: 0.91
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotypes in OMIM and as definitive Gen2Phen gene for Benign familial infantile epilepsy & infantile convulsions with choreoathetosis syndrome. Numerous variants have been reported and PMID 10908896 reports apnea in 9/11 families with infantile convulsions.Created: 22 Dec 2022, 6:07 p.m. | Last Modified: 22 Dec 2022, 6:07 p.m.
Panel Version: 0.30
Eleanor Williams (Genomics England Curator)
Gene added on recommendation of Dr Emma Matthews.Created: 21 Dec 2022, 2:49 p.m. | Last Modified: 21 Dec 2022, 2:49 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066
- infantile convulsions and choreoathetosis, MONDO:0011178
- Episodic kinesigenic dyskinesia 1, OMIM:128200
- episodic kinesigenic dyskinesia 1, MONDO:0100352
- Seizures, benign familial infantile, 2, OMIM: 605751
- seizures, benign familial infantile, 2, MONDO:0011593
- OMIM
- 614386
- Clinvar variants
- Variants in PRRT2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Hereditary ataxia
- Brain channelopathy
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: prrt2 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066; infantile convulsions and choreoathetosis, MONDO:0011178 to Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066; infantile convulsions and choreoathetosis, MONDO:0011178; Episodic kinesigenic dyskinesia 1, OMIM:128200; episodic kinesigenic dyskinesia 1, MONDO:0100352; Seizures, benign familial infantile, 2, OMIM: 605751; seizures, benign familial infantile, 2, MONDO:0011593
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PRRT2 were set to
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PRRT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PRRT2 were changed from to Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066; infantile convulsions and choreoathetosis, MONDO:0011178
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: PRRT2 was added gene: PRRT2 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: PRRT2 was set to