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Intellectual disability

Gene: TKFC

No list

TKFC (triokinase and FMN cyclase)
EnsemblGeneIds (GRCh38): ENSG00000149476
EnsemblGeneIds (GRCh37): ENSG00000149476
OMIM: 615844, Gene2Phenotype
TKFC is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated individuals reported.
Sources: Expert list
Created: 2 Feb 2020, 11:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental delay; cataracts; liver dysfunction

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Developmental delay
  • cataracts
  • liver dysfunction
OMIM
615844
Clinvar variants
Variants in TKFC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TKFC was added gene: TKFC was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TKFC were set to 32004446 Phenotypes for gene: TKFC were set to Developmental delay; cataracts; liver dysfunction Review for gene: TKFC was set to AMBER