| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Structural eye disease v0.83 | SCLT1 | Ivone Leong Publications for gene: SCLT1 were set to 29450879; 24285566; 27894351; 28486600; 30425282; 30237576; 24285566; 29450879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.82 | SCLT1 | Ivone Leong Publications for gene: SCLT1 were set to 29450879; 24285566; 27894351; 28486600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.81 | SCLT1 | Anna de Burca reviewed gene: SCLT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30425282, 30237576, 24285566, 29450879; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.80 | SCLT1 |
Ivone Leong Source Expert Review Amber was added to SCLT1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.76 | SCLT1 | Nicola Ragge reviewed gene: SCLT1: Rating: GREEN; Mode of pathogenicity: ; Publications: PubMed:24285566, 29450879; Phenotypes: Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM), None; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.50 | SCLT1 | Ivone Leong Publications for gene: SCLT1 were set to 29450879; 24285566 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | SCLT1 | Ivone Leong edited their review of gene: SCLT1: Changed phenotypes: Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM), None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | SCLT1 | Ivone Leong reviewed gene: SCLT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24285566, 29450879; Phenotypes: Craniolenticulosutural dysplasia, 607812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | SCLT1 |
Ivone Leong gene: SCLT1 was added gene: SCLT1 was added to Structural eye disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCLT1 were set to 29450879; 24285566 Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome IX (a severe ciliopathy phenotype featuring midline cleft, microcephaly, and colobomatous microphthalmia/anophthalmia, one case only (Adly et al 2014), variant was classified as unknown significance by OMIM); None |
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