| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PRIMORDIAL DWARFISM SECKEL SYNDROME 8 615807 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Seckel syndrome 8, OMIM:615807 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | 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 8.0 | 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 3.105 | 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 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Seckel syndrome 8, OMIM:615807, Microcephalic primordial dwarfism, MONDO:0017950 |