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| Structural eye disease v1.113 | CENPF |
Ivone Leong Tag for-review was removed from gene: CENPF. Tag Q1_22_NHS_review was removed from gene: CENPF. |
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| Structural eye disease v1.113 | CENPF | Ivone Leong commented on gene: CENPF: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.112 | CENPF |
Ivone Leong Source Expert Review Green was added to CENPF. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v1.106 | CENPF | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CENPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | CENPF | Nicola Ragge edited their review of gene: CENPF: Added comment: Stromme: two girls with Stromme syndrome and unilateral microcornea, later demonstrated to have compound het truncating variants by Filges, who also described another family with ocular anomalies. Ozkinay: family with two siblings with microphthalmia and Stromme syndrome with homozygous frameshift variant parents het, Alghamdi: family with two siblings with stromme syndrome: one with unilateral microphthalmia and one with corneal opacities with homozygous missense parents het;Syndrome seems mainly cataract - but sometimes with microcornea plus optic nerve coloboma and macular coloboma. Ho et al. 2022 have pubblished a further case with microphthalmia and compound het truncating variants, one inherited from mother; father n/a; Changed publications to: 31953238, 28407396, 26820108, 35001526, 8261651 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.33 | CENPF | Ivone Leong changed review comment from: Comment on list classification: Promoted from Red to Amber. This gene should be promoted to Green status when the panel is reviewed.; to: Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). This gene should be promoted to Green status when the panel is reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.31 | CENPF | Ivone Leong Classified gene: CENPF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.31 | CENPF | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene should be promoted to Green status when the panel is reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.31 | CENPF | Ivone Leong Gene: cenpf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.30 | CENPF | Ivone Leong Tag for-review tag was added to gene: CENPF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.29 | CENPF | Nicola Ragge reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: ; Publications: 8261651, 26820108, 28407396, 31953238; Phenotypes: Stromme syndrome, MIM:600236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.28 | CENPF |
Ivone Leong gene: CENPF was added gene: CENPF was added to Structural eye disease. Sources: Expert list Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to 28407396; 8261651; 31953238; 26820108 Phenotypes for gene: CENPF were set to Stromme syndrome, OMIM:243605, MONDO:0009477 |
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