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Epileptic encephalopathy

Gene: SLC25A1

Green List (high evidence)

SLC25A1 (solute carrier family 25 member 1)
EnsemblGeneIds (GRCh38): ENSG00000100075
EnsemblGeneIds (GRCh37): ENSG00000100075
OMIM: 190315, Gene2Phenotype
SLC25A1 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.

20 Mar 2017, 11:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined D-2- and L-2-hydroxyglutaric aciduria 615182

History Filter Activity

20 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

20 Mar 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SLC25A1 was added to Epileptic encephalopathypanel. Sources: Expert Review

20 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SLC25A1 was created by sleigh