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| Bilateral congenital or childhood onset cataracts v2.94 | TCF4 | Sarah Leigh Classified gene: TCF4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.94 | TCF4 | Sarah Leigh Added comment: Comment on list classification: Single case of paediatric cateracts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.94 | TCF4 | Sarah Leigh Gene: tcf4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.93 | TCF4 | Sarah Leigh Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.93 | TCF4 | Sarah Leigh Phenotypes for gene: TCF4 were changed from Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267 to paediatric cataracts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.92 | TCF4 | Sarah Leigh Publications for gene: TCF4 were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.91 | TCF4 | Sarah Leigh edited their review of gene: TCF4: Added comment: 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.; Changed rating: AMBER; Changed publications to: https://doi.org/10.3390/genes12121918; Changed phenotypes to: paediatric cataracts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.91 | TCF4 | Sarah Leigh Entity copied from Corneal dystrophies v1.8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v2.91 | TCF4 |
Sarah Leigh 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 |
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