TKFC

triokinase and FMN cyclase
OMIM: 615844, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber TKFC in Cataract Level 2: Ophthalmological disorders Version 0.373	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Triokinase and FMN cyclase deficiency syndrome, MIM#618805 Developmental delay cataracts liver dysfunction
Amber TKFC in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Triokinase and FMN cyclase deficiency syndrome, MIM#618805 Inborn error of immunity, MONDO:0003778, TKFC-related
Red TKFC in Combined Immunodeficiency Level 2: Immunological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Inborn error of immunity, MONDO:0003778, TKFC-related
Amber TKFC in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Triokinase and FMN cyclase deficiency syndrome, MIM#618805 Developmental delay cataracts liver dysfunction
Amber TKFC in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Liverome Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Triokinase and FMN cyclase deficiency syndrome, MIM#618805 Developmental delay cataracts liver dysfunction