Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R57 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes HNRNPH1-related neurodevelopmental disorder, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes HNRNPH1-related neurodevelopmental disorder |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes HNRNPH1‐related syndromic intellectual disability, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083 |