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  3. TKFC
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Cataract

Gene: TKFC

Amber List (moderate 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)

I don't know

Two unrelated individuals reported.
Sources: Literature
Created: 2 Feb 2020, 11:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Developmental delay; cataracts; liver dysfunction

Publications

Created: 2 Feb 2020, 11:11 a.m.

Panel version: 0.239

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Triokinase and FMN cyclase deficiency syndrome, MIM#618805
  • Developmental delay
  • cataracts
  • liver dysfunction
OMIM
615844
Clinvar variants
Variants in TKFC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Nov 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TKFC were changed from Developmental delay; cataracts; liver dysfunction to Triokinase and FMN cyclase deficiency syndrome, MIM#618805; Developmental delay; cataracts; liver dysfunction

2 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Feb 2020, 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 Cataract. Sources: Literature 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