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Intellectual disability

Gene: TKFC

Amber List (moderate evidence)

TKFC (triokinase and FMN cyclase)
EnsemblGeneIds (GRCh38): ENSG00000149476
EnsemblGeneIds (GRCh37): ENSG00000149476
OMIM: 615844, Gene2Phenotype
TKFC is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Additional cases required before inclusion on a diagnostic panel (added to watchlist).
Created: 27 Aug 2020, 4:07 p.m. | Last Modified: 27 Aug 2020, 4:07 p.m.
Panel Version: 3.274
Associated with phenotype in OMIM, and a possible gene for TKFC-related Cataracts and Multisystem Disease in G2P.

PMID: 32004446 (2020) - Two sib pairs from two unrelated consanguineous families with an inborn error of metabolism caused by homozygous variants in TKFC. In Family 1, both sibs had congenital cataracts but otherwise presented disparate phenotypes. The older sister had DD (motor and speech) and cerebellar hypoplasia; while the younger sister had liver dysfunction and fatal cardiomyopathy at 11 weeks with severe lactic acidosis following a febrile illness. In Family 2, the brother exhibited global DD as well as bilateral cataracts at 22 months. He developed progressive non-cholestatic liver failure, and at 3yrs-10mon he could not walk independently and had no words. His older sister, had delayed speech development and learning difficulties, but is otherwise well and did not have cataracts.

Both variants segregated with disease in each family, and some functional data of the variants using yeast cells.
Created: 27 Aug 2020, 4:05 p.m. | Last Modified: 27 Aug 2020, 4:05 p.m.
Panel Version: 3.272

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Triokinase and FMN cyclase deficiency syndrome, 618805

Publications

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
  • Expert Review Amber
Phenotypes
  • Triokinase and FMN cyclase deficiency syndrome, 618805
Tags
watchlist
OMIM
615844
Clinvar variants
Variants in TKFC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

27 Aug 2020, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

27 Aug 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: TKFC.

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