Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
R-numbers: R57 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GABA-transaminase deficiency 613163 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GABA-transaminase deficiency 613163 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GABA-transaminase deficiency, 613163, developmental delay |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 613163, GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate), mtDNA depletion syndrome |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes mtDNA depletion syndrome, 613163 |
R-numbers: R352 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial DNA depletion syndrome |
R-numbers: R63 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial DNA depletion syndrome |