Activity
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| Corneal dystrophy v3.13 | TCF4_CTG |
Sarah Leigh STR: TCF4_CTG was added STR: TCF4_CTG was added to Corneal dystrophy. Sources: Literature STR, NGS Not Validated tags were added to STR: TCF4_CTG. Mode of inheritance for STR: TCF4_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for STR: TCF4_CTG were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321 Phenotypes for STR: TCF4_CTG were set to Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267; corneal dystrophy, Fuchs endothelial, 3, MONDO:0013203 Review for STR: TCF4_CTG was set to GREEN Added comment: TCF4 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence. TCF4_CTG is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 TCF4_CTG is on https://stripy.org/database TCF4_CTG is on DRAGON 4.02. The coordinates of the sequence repeats shown above were obtained from DRAGON 4.02 The coordinates https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 and https://stripy.org/database were the same as above. The non-pathogenic and pathogenic ranges of the sequence repeats shown above were obtained from: https://stripy.org/database There is enough evidence for this STR to be green on this panel. This STR has not been approved by NHS STR working group and is not NGS Not Validated Sources: Literature |
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| Corneal dystrophy v3.5 | TCF4 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v3.5 | TCF4 | Sarah Leigh Publications for gene: TCF4 were set to 29526280; 26401622; 24255041; 25168903; 25722209; 25593321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v1.8 | TCF4 | Sarah Leigh changed review comment from: Comment on publications: Also https://doi.org/10.3390/genes12121918 (no PMID available 30th Dec 2021).; to: Comment on publications: Also https://doi.org/10.3390/genes12121918 (no PMID available 30th Nov 2021). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v1.8 | TCF4 | Ivone Leong Phenotypes for gene: TCF4 were changed from Corneal dystrophy, Fuchs endothelial, 3, 613267 to Corneal dystrophy, Fuchs endothelial, 3, OMIM:613267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v1.7 | TCF4 | Dmitrijs Rots reviewed gene: TCF4: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v1.7 | TCF4 | Sarah Leigh Added comment: Comment on publications: Also https://doi.org/10.3390/genes12121918 (no PMID available 30th Dec 2021). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v1.7 | TCF4 | Sarah Leigh Publications for gene: TCF4 were set to 29526280; 26401622 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v0.6 | TCF4 | Ivone Leong Classified gene: TCF4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v0.6 | TCF4 | Ivone Leong Gene: tcf4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v0.5 | TCF4 |
Ivone Leong gene: TCF4 was added gene: TCF4 was added to Corneal dystrophies. Sources: 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 Phenotypes for gene: TCF4 were set to Corneal dystrophy, Fuchs endothelial, 3, 613267 Review for gene: TCF4 was set to GREEN Added comment: 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 list |
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