Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pancreatic and cerebellar agenesis, 609069 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069, PANCREATIC AGENESIS |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS, PANCREATIC AGENESIS |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pancreatic and cerebellar agenesis, OMIM:609069, Permanent neonatal diabetes mellitus, MONDO:0100164, Pancreatic agenesis 2, OMIM:615935 |