| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes WARS1-associated neurodevelopmental syndrome, Distal hereditary motor neuropathy |
R-numbers: R78 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Neuronopathy, distal hereditary motor, type IX, 617721 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 10.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, OMIM:620317, neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, MONDO:0957218 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 9.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, OMIM:620317, neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, MONDO:0957218 |