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  2. Miscellaneous Metabolic Disorders
  3. FTCD
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Miscellaneous Metabolic Disorders

Gene: FTCD

Green List (high evidence)
FTCD (formimidoyltransferase cyclodeaminase)
EnsemblGeneIds (GRCh38): ENSG00000160282
EnsemblGeneIds (GRCh37): ENSG00000160282
OMIM: 606806, Gene2Phenotype
FTCD is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Glutamate formiminotransferase deficiency is classified as a benign form of folate metabolism disorder and an inborn error of amino acid metabolism without clinically significant phenotype (http://iembase.com/disorder/47)
Created: 11 Sep 2023, 5:53 a.m. | Last Modified: 11 Sep 2023, 5:53 a.m.
Panel Version: 1.29

Phenotypes
Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism

Publications

  • http://iembase.com/disorder/47

Created: 11 Sep 2023, 5:53 a.m.
Last Modified: 11 Sep 2023, 5:53 a.m.
Panel version: 1.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glutamate formiminotransferase deficiency MIM#229100
  • Disorders of histidine, tryptophan or lysine metabolism
OMIM
606806
Clinvar variants
Variants in FTCD
Penetrance
None
Publications
  • http://iembase.com/disorder/47
Panels with this gene

History Filter Activity

11 Sep 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FTCD were set to 27604308; 12815595

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

4 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FTCD was added gene: FTCD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTCD were set to 27604308; 12815595 Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism Review for gene: FTCD was set to GREEN gene: FTCD was marked as current diagnostic