RFX6

regulatory factor X6
OMIM: 612659
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MARTINEZ-FRIAS SYNDROME 601346
R-numbers: R143
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitchell-Riley syndrome, OMIM:615710 (includes neonatal diabetes)
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MARTINEZ-FRIAS SYNDROME
R-numbers: R331
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitchell-Riley syndrome, OMIM:615710
R-numbers: R141
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities, Mitchell-Riley syndrome, 615710, recessive syndromic diabetes and autosomal dominant MODY