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  3. SLC25A19
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Hereditary Neuropathy - complex

Gene: SLC25A19

Green List (high evidence)
SLC25A19 (solute carrier family 25 member 19)
EnsemblGeneIds (GRCh38): ENSG00000125454
EnsemblGeneIds (GRCh37): ENSG00000125454
OMIM: 606521, Gene2Phenotype
SLC25A19 is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Neuropathy is a feature of the condition
Sources: Literature
Created: 4 May 2024, 11:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382

Publications

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

Created: 4 May 2024, 11:18 a.m.

Panel version: 1.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382
OMIM
606521
Clinvar variants
Variants in SLC25A19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc25a19 has been classified as Green List (High Evidence).

4 May 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc25a19 has been classified as Green List (High Evidence).

4 May 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC25A19 was added gene: SLC25A19 was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A19 were set to 20301539 Phenotypes for gene: SLC25A19 were set to Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382 Review for gene: SLC25A19 was set to GREEN gene: SLC25A19 was marked as current diagnostic