Congenital ophthalmoplegia
Gene: SLC18A3EnsemblGeneIds (GRCh38): ENSG00000187714
EnsemblGeneIds (GRCh37): ENSG00000187714
OMIM: 600336, Gene2Phenotype
SLC18A3 is in 6 panels
1 review
Shannon LeBlanc (Victorian Clinical Genetics Services)
congenital myasthenic syndrome - ptosis and ophthalmoplegia are common features.
Three families with bi-allelic variants and a mouse model support gene-disease association. Fetal akinesia reported in association with LOF variants.
Sources: LiteratureCreated: 20 Dec 2020, 10:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 21, presynaptic OMIM 617239
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Myasthenic syndrome, congenital, 21, presynaptic OMIM 617239
- OMIM
- 600336
- Clinvar variants
- Variants in SLC18A3
- 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: slc18a3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc18a3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Shannon LeBlanc (Victorian Clinical Genetics Services)gene: SLC18A3 was added gene: SLC18A3 was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A3 were set to PMID: 27590285; 20123977; 28188302; 31059209 Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic OMIM 617239 Review for gene: SLC18A3 was set to GREEN