SLC25A3

solute carrier family 25 member 3
OMIM: 600370
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial phosphate carrier deficiency, 610773, Mitochondrial phosphate carrier deficiency 610773, Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial phosphate carrier deficiency, 610773
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial phosphate carrier deficiency, 610773