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  2. Likely inborn error of metabolism
  3. FTCD
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Likely inborn error of metabolism

Gene: FTCD

Green List (high evidence)
FTCD (formimidoyltransferase cyclodeaminase)
EnsemblGeneIds (GRCh38): ENSG00000160282
EnsemblGeneIds (GRCh37): ENSG00000160282
OMIM: 606806, Gene2Phenotype
FTCD is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 15 variants reported.
Created: 13 Aug 2019, 3:40 p.m. | Last Modified: 13 Aug 2019, 3:40 p.m.
Panel Version: 1.128
Created: 13 Aug 2019, 3:40 p.m.
Last Modified: 13 Aug 2019, 3:40 p.m.
Panel version: 1.128

Ellen McDonagh (Genomics England Curator)

Added "ngs-false-positive-region" tag to indicate that within this gene there is a region where false positive variants may be picked up when sequenced by NGS techniques.
Created: 13 Feb 2017, 3 p.m.
Created: 13 Feb 2017, 3 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.277

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Glutamate formiminotransferase deficiency 229100
OMIM
606806
Clinvar variants
Variants in FTCD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ftcd has been classified as Green List (High Evidence).

13 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FTCD were set to 27604308; 12815595

13 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FTCD were set to 27604308

13 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FTCD were changed from Glutamate formiminotransferase deficiency to Glutamate formiminotransferase deficiency 229100

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FTCD. Source London North GLH was added to FTCD.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: FTCD was added gene: FTCD was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTCD were set to 27604308 Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency