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  2. Paediatric motor neuronopathies
  3. SLC52A3
STRs in panel
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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 15 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

Created: 2 Mar 2017, 4:24 p.m.

Panel version: 0.89

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

Created: 26 Nov 2016, 4:42 p.m.

Panel version: 0.29

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

Created: 2 Nov 2016, 11:49 a.m.

Panel version: 0.0

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, OMIM: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

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, 211530 to Brown-Vialetto-Van Laere syndrome 1, OMIM:211530

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