Genomics England
GMS Panels
Panels
Genes and Entities

SLC25A20

solute carrier family 25 member 20
OMIM: 613698
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Green
in Likely inborn error of metabolism
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine-acylcarnitine translocase deficiency 212138, Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle)
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine-acylcarnitine translocase deficiency, OMIM:212138, carnitine-acylcarnitine translocase deficiency, MONDO:0008918
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 6.0
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)