RFX6

regulatory factor X6
OMIM: 612659
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MARTINEZ-FRIAS SYNDROME 601346
R-numbers: R143
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities, Mitchell-Riley syndrome, 615710 (includes neonatal diabetes), Syndromic Neonatal diabetes, pancreatic hypoplasia, gallbladder aplasia and intestinal atresia, Mitchell-Riley syndrome
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MARTINEZ-FRIAS SYNDROME
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