Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: SLC18A2

Amber List (moderate evidence)

SLC18A2 (solute carrier family 18 member A2)
EnsemblGeneIds (GRCh38): ENSG00000165646
EnsemblGeneIds (GRCh37): ENSG00000165646
OMIM: 193001, Gene2Phenotype
SLC18A2 is in 5 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SLC18A2; Recommended initial gene rating: I don't know; Phenotypes: ?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3) | ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726
  • ?Amyotrophic lateral sclerosis 16, juvenile, 614373
OMIM
193001
Clinvar variants
Variants in SLC18A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SLC18A2 were updated from to 30847515