Activity
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7 actions
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| Corneal dystrophy v2.3 | TGFBI | Achchuthan Shanmugasundram Tag Q1_22_MOI was removed from gene: TGFBI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v2.3 | TGFBI | Achchuthan Shanmugasundram commented on gene: TGFBI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v2.2 | TGFBI |
Achchuthan Shanmugasundram Source NHS GMS was added to TGFBI. Mode of inheritance for gene TGFBI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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| Corneal dystrophy v1.13 | TGFBI | Arina Puzriakova Tag Q1_22_MOI tag was added to gene: TGFBI. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v1.10 | TGFBI | Ivone Leong reviewed gene: TGFBI: Rating: ; Mode of pathogenicity: None; Publications: 31322463, 30830990, 32952948; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v0.3 | TGFBI | Morag Shanks reviewed gene: TGFBI: Rating: GREEN; Mode of pathogenicity: ; Publications: 17962451, 17668063, 23169578; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Corneal dystrophy v0.2 | TGFBI |
Ivone Leong gene: TGFBI was added gene: TGFBI was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green Mode of inheritance for gene: TGFBI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFBI were set to 17962451; 23169578; 17668063 Phenotypes for gene: TGFBI were set to Corneal dystrophy, Groenouw type I 121900; Corneal dystrophy, Avellino type 607541; Corneal dystrophy, Thiel-Behnke type 602082; Corneal dystrophy, lattice type I 122200; Corneal dystrophy, Reis-Bucklers type 608470; Corneal dystrophy, epithelial basement membrane 121820; Corneal dystrophy, lattice type IIIA 608471 |
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