Inherited white matter disorders
Gene: SLC13A5
SLC13A5 (solute carrier family 13 member 5)
EnsemblGeneIds (GRCh38): ENSG00000141485
EnsemblGeneIds (GRCh37): ENSG00000141485
OMIM: 608305, Gene2Phenotype
SLC13A5 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000141485
EnsemblGeneIds (GRCh37): ENSG00000141485
OMIM: 608305, Gene2Phenotype
SLC13A5 is in 8 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:04 p.m.
Zornitza Stark (Australian Genomics)
8 patients from 5 families specifically described as having white matter lesions as part of their EE phenotype.Created: 24 Jul 2018, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Epileptic encephalopathy, early infantile 25, EIEE 25, MIM#615905
- OMIM
- 608305
- Clinvar variants
- Variants in SLC13A5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
19 Dec 2018, Gel status: 1
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: slc13a5 has been classified as Red List (Low Evidence).
24 Jul 2018, Gel status: 0
Added New Source
Zornitza Stark (Australian Genomics)SLC13A5 was added to Inherited white matter disorders panel. Sources: Expert list
24 Jul 2018, Gel status: 0
Created
Zornitza Stark (Australian Genomics)SLC13A5 was created by Zornitza Stark