Bilateral congenital or childhood onset cataracts
Gene: TKFC
Comment on list classification: Additional cases required before inclusion on a diagnostic panel (added to watchlist).Created: 27 Aug 2020, 4:04 p.m. | Last Modified: 27 Aug 2020, 4:04 p.m.
Panel Version: 2.12
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 p.m. | Last Modified: 27 Aug 2020, 4 p.m.
Panel Version: 2.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Triokinase and FMN cyclase deficiency syndrome, 618805
Publications
Two unrelated individuals reported.
Sources: Expert listCreated: 7 Jul 2020, 2:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental delay; cataracts; liver dysfunction
Publications
Tag watchlist tag was added to gene: TKFC.
Phenotypes for gene: TKFC were changed from Developmental delay; cataracts; liver dysfunction to Triokinase and FMN cyclase deficiency syndrome, 618805
Gene: tkfc has been classified as Amber List (Moderate Evidence).
gene: TKFC was added gene: TKFC was added to Cataracts. 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