Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.14 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 |
R-numbers: R353 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 |