Genomics England

regulatory factor X6

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MARTINEZ-FRIAS SYNDROME 601346
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MARTINEZ-FRIAS SYNDROME
Green in Intestinal failure or congenital diarrhoea R-numbers: R331 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitchell-Riley syndrome, OMIM:615710
Green in Monogenic diabetes 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
Green in Neonatal diabetes R-numbers: R143 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitchell-Riley syndrome, OMIM:615710 (includes neonatal diabetes)