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Gene: FTCD

Red List (low evidence)

Inborn error of folate metabolism, benign biochemical phenotype. Majumdar et al 2017 NBS paper: Of 20 screen-positive patients, 1 had mild development delay and another had DD that was likely due to another etiology. FIGLU was elevated in urine in all tested patients at follow-up but there were no additional developmental concerns/signs of anemia. From Mackenzie's Mission PanelApp review: The corresponding author on the Majumdar et al 2017 paper writes that “evaluating FTCD for sequence variance would have limited utility for reproductive decisions as the clinical implication of both known and novel FTCD variation is uncertain at best”.

Created: 4 Nov 2024, 2 a.m. | Last Modified: 4 Nov 2024, 2 a.m.

Panel Version: 1.546

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutamate formiminotransferase deficiency, MIM #229100

Publications

• PMID: 29178637

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

• 29178637
• 30740726

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

• 29178637
• 30740726
• 12815595