Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes pancreatic agenesis and holoprosencephaly syndrome, HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS 618500 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500 |
Green in Holoprosencephaly - NOT chromosomalComponent of the following Super Panels:
R-numbers: R85 Signed-off version 4.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, OMIM:618500, holoprosencephaly 12 with or without pancreatic agenesis, MONDO:0032787 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 5.343 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500, global developmental delay |