Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY 245590 |
Green in Growth failure in early childhoodR-numbers: R147 Signed-off version 3.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590, Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985 |
R-numbers: R15 Signed-off version 4.123 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590, Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985, T-B+ SCID, Combined immunodeficiency, Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity, Combined immunodeficiencies with associated or syndromic features |