RFX6

regulatory factor X6
OMIM: 612659, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green RFX6 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Mitchell-Riley syndrome, MIM# 615710
Red RFX6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Mitchell-Riley syndrome, MIM#615710
Green RFX6 in Maturity-onset Diabetes of the Young Level 2: Endocrine disorders Version 1.21	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes maturity-onset diabetes of the young MONDO:0018911
Green RFX6 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list NHS GMS Expert Review Green Phenotypes Mitchell-Riley syndrome, 615710 Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities recessive syndromic diabetes and autosomal dominant MODY
Green RFX6 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitchell-Riley syndrome, 615710 (3)
Red RFX6 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Diabetes, neonatal, with intestinal atresia
Green RFX6 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Mitchell-Riley syndrome, MIM#615710
Green RFX6 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitchell-Riley syndrome, 615710 (3)
Red RFX6 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Diabetes, neonatal, with intestinal atresia