Arthrogryposis
Gene: SLC18A3EnsemblGeneIds (GRCh38): ENSG00000187714
EnsemblGeneIds (GRCh37): ENSG00000187714
OMIM: 600336, Gene2Phenotype
SLC18A3 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two of four families presented with fetal akinesia and arthrogryposis.
Sources: Expert listCreated: 12 Jul 2020, 10:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 21, presynaptic, 617239; arthrogryposis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Myasthenic syndrome, congenital, 21, presynaptic, 617239
- arthrogryposis
- 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 Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc18a3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC18A3 was added gene: SLC18A3 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A3 were set to 28188302; 27590285; 31059209 Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, 617239; arthrogryposis Review for gene: SLC18A3 was set to AMBER