Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R57 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458 |
R-numbers: R316 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 614458 |