SLC25A3

solute carrier family 25 member 3
OMIM: 600370
PanelMode of inheritanceDetails
3 panels
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
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:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial phosphate carrier deficiency, 610773
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial phosphate carrier deficiency, 610773