Paediatric motor neuronopathies

Gene: SLC52A3

Green List (high evidence)

SLC52A3 (solute carrier family 52 member 3)
EnsemblGeneIds (GRCh38): ENSG00000101276
EnsemblGeneIds (GRCh37): ENSG00000101276
OMIM: 613350, Gene2Phenotype
SLC52A3 is in 16 panels

3 reviews

Pinki Munot (Consultant )

Green List (high evidence)

many families reported
well characterised phenotype
Created: 2 Mar 2017, 4:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brown-Vialetto-Van Laere syndrome; infantile motor neuronopathy; deafness; respiratory insufficiency

Dragana Josifova (Guy's and St. Thomas' NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Alice Gardham (Genomics England)

Green List (high evidence)

Many reported individuals with mutations in this gene. Diagnostic test offered on UKGTN
Created: 2 Nov 2016, 11:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brown-Vialetto-Van Laere syndrome 1, 211530

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 1, 211530
OMIM
613350
Clinvar variants
Variants in SLC52A3
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

7 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

21 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for SLC52A3 were set to 20206331; 20920669

21 Dec 2016, Gel status: 4

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for SLC52A3 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

30 Apr 2015, Gel status: 2

Added New Source

Antonio Rueda (GEL)

SLC52A3 was added to Paediatric motor neuronopathiespanel. Sources: UKGTN

30 Apr 2015, Gel status: 1

Added New Source

Antonio Rueda (GEL)

SLC52A3 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen