RFX6

regulatory factor X6
OMIM: 612659, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
No list RFX6 in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed UKGTN Phenotypes Neonatal Diabetes Tags curated_removed
Green RFX6 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities Mitchell-Riley syndrome
Green RFX6 in Neonatal diabetes Level 2: Endocrinology Version 5.17 Latest signed off version: v5.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Phenotypes Mitchell-Riley syndrome, OMIM:615710 (includes neonatal diabetes)
Green RFX6 in Intestinal failure or congenital diarrhoea Level 2: Gastrohepatology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitchell-Riley syndrome, OMIM:615710
Green RFX6 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Phenotypes Mitchell-Riley syndrome
Green RFX6 in Monogenic diabetes Level 2: Endocrinology Version 3.10 Latest signed off version: v3.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitchell-Riley syndrome, OMIM:615710
Red RFX6 in Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.14	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes anorectal malformation Mitchell-Riley syndrome 615710 MARTINEZ-FRIAS SYNDROME
Green RFX6 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MARTINEZ-FRIAS SYNDROME
Green RFX6 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MARTINEZ-FRIAS SYNDROME 601346
Red RFX6 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Mitchell-Riley syndrome, 615710