FTCD

formimidoyltransferase cyclodeaminase
OMIM: 606806, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green FTCD in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Glutamate formiminotransferase deficiency MIM#229100 Disorders of histidine, tryptophan or lysine metabolism
Amber FTCD in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Glutamate formiminotransferase deficiency MIM#229100
Green FTCD in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glutamate formiminotransferase deficiency, 229100 (3)
Red FTCD in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Glutamate formiminotransferase deficiency
Amber FTCD in Red cell disorders Level 2: Haematological disorders Version 1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London South GLH NHS GMS Phenotypes Glutamate formiminotransferase deficiency MIM# 229100
Green FTCD in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.48 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glutamate formiminotransferase deficiency MIM#229100 Disorders of histidine, tryptophan or lysine metabolism
Red FTCD in Prepair 1000+ Level 2: Screening Version 1.1566	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Glutamate formiminotransferase deficiency (MIM#229100)
Red FTCD in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Glutamate formiminotransferase deficiency