Red cell disorders
Gene: FTCDEnsemblGeneIds (GRCh38): ENSG00000160282
EnsemblGeneIds (GRCh37): ENSG00000160282
OMIM: 606806, Gene2Phenotype
FTCD is in 8 panels
1 review
Danielle Ariti (University of Melbourne)
>20 individuals reported with (missense, nonsense, frameshift and deletion) variants
PMID: 29178637- reports 20 individuals with putative FTCD deficiency with anaemia not prevalent in this cohort when tested.
PMID: 30740726- reported 18 patients with putative FTCD deficiency through Newborn Screening. At 56 months follow-up, 4/16 (25%) had mild self-limited anaemia; no patients had profound anaemia.
PMID: 5301410- reported 3 unrelated FTCD patients. 1/3 patients associated with megaloblastic pyridoxine-folic acid-responsive anaemia.Created: 16 Sep 2021, 12:47 a.m. | Last Modified: 16 Sep 2021, 12:47 a.m.
Panel Version: 0.151
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutamate formiminotransferase deficiency MIM# 229100
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- London South GLH
- NHS GMS
- Phenotypes
-
- Glutamate formiminotransferase deficiency MIM# 229100
- OMIM
- 606806
- Clinvar variants
- Variants in FTCD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ftcd has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FTCD were changed from 229100 Glutamate formiminotransferase deficiency to Glutamate formiminotransferase deficiency MIM# 229100
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: FTCD were set to 12815595
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ftcd has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes 229100 Glutamate formiminotransferase deficiency for gene: FTCD
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FTCD was added gene: FTCD was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,London South GLH Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTCD were set to 12815595 Phenotypes for gene: FTCD were set to 229100 Glutamate formiminotransferase deficiency