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  2. Combined Immunodeficiency
  3. TKFC
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Combined Immunodeficiency

Gene: TKFC

Red List (low evidence)
TKFC (triokinase and FMN cyclase)
EnsemblGeneIds (GRCh38): ENSG00000149476
EnsemblGeneIds (GRCh37): ENSG00000149476
OMIM: 615844, Gene2Phenotype
TKFC is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported with homozygous variant.

Note relationship with syndromic ID also postulated.
Sources: Literature
Created: 5 Jun 2024, 9:06 p.m. | Last Modified: 5 Jun 2024, 9:07 p.m.
Panel Version: 1.66

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inborn error of immunity, MONDO:0003778, TKFC-related

Publications

Created: 5 Jun 2024, 9:06 p.m.
Last Modified: 5 Jun 2024, 9:07 p.m.
Panel version: 1.66

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Inborn error of immunity, MONDO:0003778, TKFC-related
OMIM
615844
Clinvar variants
Variants in TKFC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Jun 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TKFC was added gene: TKFC was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKFC were set to 38697782 Phenotypes for gene: TKFC were set to Inborn error of immunity, MONDO:0003778, TKFC-related Review for gene: TKFC was set to RED