Neuromuscular arthrogryposis

Gene: SLC18A3

Amber List (moderate evidence)

SLC18A3 (solute carrier family 18 member A3)
EnsemblGeneIds (GRCh38): ENSG00000187714
EnsemblGeneIds (GRCh37): ENSG00000187714
OMIM: 600336, Gene2Phenotype
SLC18A3 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 28 Apr 2019, 6:36 p.m.

Michael Oldridge (NHS)

I don't know

2 families
Created: 28 Apr 2019, 6:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 21, presynaptic, 617239

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Wessex and West Midlands GLH
Phenotypes
  • Myasthenic syndrome, congenital, 21, presynaptic, 617239
OMIM
600336
Clinvar variants
Variants in SLC18A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC18A3.

28 Apr 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to SLC18A3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

28 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: SLC18A3 was added gene: SLC18A3 was added to Neuromuscular arthrogryposis. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A3 were set to 27590285; 28188302 Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, 617239