Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Carnitine-acylcarnitine translocase deficiency 212138, Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 3.44 | 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) |