| Panel | Mode of inheritance | Details |
|---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68, OMIM:618302 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033, Young onset diabetes, short stature and microcephaly with intellectual disability |
Green in Monogenic diabetesR-numbers: R141 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies, young onset diabetes, short stature and microcephaly with intellectual disability, Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability, Microcephaly, short stature, and impaired glucose metabolism 1, 616033 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033, MSSGM1, primary microcephaly |