Bilateral congenital or childhood onset cataracts
Gene: TCF4
Causes corneal dystrophy only due to STR expansion. Point pathogenic variants in TCF4 gene causes Pitt-Hopkins syndrome. Should not be green on this panel, as will not yield diagnosis with corneal dystrophy.Created: 30 Nov 2021, 8:55 p.m. | Last Modified: 30 Nov 2021, 8:55 p.m.
Panel Version: 1.7
Mode of pathogenicity
Other
Comment on list classification: Single case of paediatric cateractsCreated: 9 Dec 2021, 2:10 p.m. | Last Modified: 9 Dec 2021, 2:10 p.m.
Panel Version: 2.94
Comment on phenotypes: Variants in TCF4 are associated with Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267, however, this condition does not include cataracts, which associated with TCF4 trinucleotide repeat (RCV000186552.6) in https://doi.org/10.3390/genes12121918.Created: 9 Dec 2021, 2:09 p.m. | Last Modified: 9 Dec 2021, 2:09 p.m.
Panel Version: 2.93
In https://doi.org/10.3390/genes12121918 (no PMID number available as of 9th December 2021) the authors report TCF4 trinucleotide repeat (RCV000186552.6) in a case Kearns-Sayre Syndrome and corneal endothelial failure and paediatric cataracts.Created: 9 Dec 2021, 1:59 p.m. | Last Modified: 9 Dec 2021, 1:59 p.m.
Panel Version: 2.91
Comment on publications: Also https://doi.org/10.3390/genes12121918 (no PMID available 30th Nov 2021).Created: 30 Nov 2021, 4:59 p.m. | Last Modified: 9 Dec 2021, 1:46 p.m.
Panel Version: 1.8
Phenotypes
paediatric cataracts
Publications
TCF4 is associated with Corneal dystrophy in OMIM but not in Gene2Phenotype. There is enough evidence for this gene to be rated green on this panel. It should be noted that the CTG18.1 repeat expansion in the intronic region of TCF4 may be difficult to analyse due to technical difficulties with short-read WGS.
Sources: Expert listCreated: 31 Jul 2019, 10:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Corneal dystrophy, Fuchs endothelial, 3, 613267
Publications
Gene: tcf4 has been classified as Red List (Low Evidence).
Phenotypes for gene: TCF4 were changed from Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267 to paediatric cataracts
Publications for gene: TCF4 were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321
gene: TCF4 was added gene: TCF4 was added to Cataracts. Sources: Expert Review Green,Expert list STR tags were added to gene: TCF4. Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TCF4 were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321 Phenotypes for gene: TCF4 were set to Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267