SLC25A20

solute carrier family 25 member 20
OMIM: 613698
PanelMode of inheritanceDetails
4 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia, Carnitine-acylcarnitine translocase deficiency 212138, Carnitine acylcarnitines translocase deficiency CAT, HCM, DCM, Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
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
Carnitine-acylcarnitine translocase deficiency 212138, Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)