SLC25A12

solute carrier family 25 member 12
OMIM: 603667
PanelMode of inheritanceDetails
6 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 39 612949
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Inherited white matter disorders, Epileptic encephalopathy, early infantile, 39 612949, Hypomyelination, global cerebral, 612949, Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 39,612949, Hypomyelination, global cerebral, Epileptic encephalopathy with global cerebral demyelination, Delayed psychomotor development
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 39 612949
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 39, 612949
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelination, global cerebral