NEUROD1

neuronal differentiation 1
OMIM: 601724
PanelMode of inheritanceDetails
3 panels
R-numbers: R141
Signed-off version 2.60
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Maturity-onset diabetes of the young 6, OMIM:606394, {Type 2 diabetes mellitus, susceptibility to}, OMIM:125853
R-numbers: R143
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, MONDO:0012192, Maturity-onset diabetes of the young 6, OMIM:606394, Neonatal diabetes and cerebellar agenesis, rocker bottom feet, poorly developed renal cortex and medulla, sacral agenesis, high imperforate anus
R-numbers: R32
Signed-off version 7.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa, Retinopathy, Permanent neonatal diabetes