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Intellectual disability syndromic and non-syndromic

Gene: FTCD

Amber List (moderate evidence)

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: According to IEMbase this gene is associated with a benign form of disorder of folate metabolism with no clinical significance
Created: 11 Sep 2023, 5:38 a.m. | Last Modified: 11 Sep 2023, 5:38 a.m.
Panel Version: 0.5394

Elena Savva (Victorian Clinical Genetics Services)

I don't know

- Mental deficiency noted in OMIM description

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.

Downgraded to amber given it isnt a common feature of this deficiency and the ID itself isnt mod-severe
Created: 7 Jul 2021, 5:07 a.m. | Last Modified: 7 Jul 2021, 5:07 a.m.
Panel Version: 0.3930

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
  • Genetic Health Queensland
Phenotypes
  • Glutamate formiminotransferase deficiency MIM#229100
OMIM
606806
Clinvar variants
Variants in FTCD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ftcd has been classified as Amber List (Moderate Evidence).

11 Sep 2023, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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

11 Sep 2023, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FTCD were set to

11 Sep 2023, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FTCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ftcd has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FTCD was added gene: FTCD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FTCD was set to Unknown