| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies, 610443, PMID: 25217958, Koolen-De Vries syndrome 610443 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies, 610443, PMID: 25217958, Koolen-De Vries syndrome 610443 |
Green in Paediatric motor neuronopathiesComponent of the following Super Panels:
Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies, 610443, PMID: 25217958, Koolen-De Vries syndrome 610443 |