Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Seckel syndrome 8, OMIM:615807 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, 615156, Disorders of mitochondrial DNA maintenance and integrity |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 4.114 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Disorders of mitochondrial DNA maintenance and integrity, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, 615156 |
R-numbers: R352 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 |
R-numbers: R63 Signed-off version 3.69 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.41 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Seckel syndrome 8, OMIM:615807, Microcephalic primordial dwarfism, MONDO:0017950 |