Congenital Myasthenia
Gene: RPH3AEnsemblGeneIds (GRCh38): ENSG00000089169
EnsemblGeneIds (GRCh37): ENSG00000089169
OMIM: 612159, Gene2Phenotype
RPH3A is in 5 panels
1 review
Kunal Verma (Royal Melbourne Hospital)
only one patient with a complex phenotype that included myasthenia, with compound het missense variants, of which only one variant had plausible functional expression data.Created: 12 Feb 2020, 3:01 a.m. | Last Modified: 12 Feb 2020, 3:01 a.m.
Panel Version: 0.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital myasthenic syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis
- OMIM
- 612159
- Clinvar variants
- Variants in RPH3A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rph3a has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rph3a has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RPH3A was added gene: RPH3A was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: RPH3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPH3A were set to 29441694 Phenotypes for gene: RPH3A were set to Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis