Genomics England
GMS Panels
Panels
Genes and Entities

SLC25A22

solute carrier family 25 member 22
OMIM: 609302
PanelMode of inheritanceDetails
3 panels
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 3
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 3, 609304, Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 3, 609304, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3