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Prepair 1000+

Gene: FTCD

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

- ID noted in OMIM description, however:

PMID: 29178637 - reports 20 individuals with putative FTCD deficiency. The diagnosis of most of the cases was based on elevated FIGLU levels determined in dried blood spots by tandem mass spectrometry. Clinical features of intellectual disability were not well reported, only "one patient with mild cognitive delay and another with developmental delay that was most likely due to another etiology"

PMID: 30740726 - 8 patients were identified to have FTCD deficiency. 3/18 (16%) had developmental delays requiring individualized education plans; no patients had profound intellectual disability.

Not suitable for screening context. R/V ZS/AY/SL/AA/JM/CL
Created: 11 Aug 2022, 7:20 a.m. | Last Modified: 11 Aug 2022, 7:20 a.m.
Panel Version: 0.117

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutamate formiminotransferase deficiency (MIM#229100)

Publications

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

FTCD deficient patients have a characteristic elevated excretion of FIGLU in the urine but may be clinically asymptomatic. Clinical outcomes for variants in this gene may be challenging to predict in a carrier screening context.

PMID: 29178637: FTCD-deficient cases are undiagnosed or unrecognized by either current laboratory testing or from the lack of a clinical presentation.
Created: 20 Jul 2022, 1:54 a.m. | Last Modified: 20 Jul 2022, 1:54 a.m.
Panel Version: 0.50

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 Red
  • Mackenzie's Mission
Phenotypes
  • Glutamate formiminotransferase deficiency (MIM#229100)
OMIM
606806
Clinvar variants
Variants in FTCD
Penetrance
None
Panels with this gene

History Filter Activity

11 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ftcd has been classified as Red List (Low Evidence).

11 Aug 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FTCD were changed from Glutamate formiminotransferase deficiency, 229100 (3) to Glutamate formiminotransferase deficiency (MIM#229100)

11 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ftcd has been classified as Red List (Low Evidence).

11 Aug 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: FTCD.

20 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: FTCD.

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FTCD was added gene: FTCD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency, 229100 (3)