Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Congenital hypothyroidismR-numbers: R145 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital hypothyroidism, Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199, neonatal non-autoimmune diabetes mellitus, severe congenital hypothyroidism, variable cholestasis, hepatic fibrosis, congenital glaucoma, polycystic kidneys, dysmorphic facies, sensorineural deafness |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM 610199 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, OMIM:610199 |