Activity
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9 actions
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| Laterality disorders and isomerism v2.3 | CFAP52 | Sarah Leigh Tag Q2_21_rating was removed from gene: CFAP52. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v2.3 | CFAP52 | Sarah Leigh reviewed gene: CFAP52: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v2.2 | CFAP52 |
Sarah Leigh Source Expert Review Green was added to CFAP52. Source NHS GMS was added to CFAP52. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Laterality disorders and isomerism v1.25 | CFAP52 | Ivone Leong Tag Q2_21_rating tag was added to gene: CFAP52. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.25 | CFAP52 | Ivone Leong Classified gene: CFAP52 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.25 | CFAP52 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.25 | CFAP52 | Ivone Leong Gene: cfap52 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.24 | CFAP52 | Ivone Leong Phenotypes for gene: CFAP52 were changed from Heterotaxy to visceral heterotaxy, MONDO:0018677 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v1.20 | CFAP52 |
Zornitza Stark gene: CFAP52 was added gene: CFAP52 was added to Laterality disorders and isomerism. Sources: Literature Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP52 were set to 25469542; 33139725 Phenotypes for gene: CFAP52 were set to Heterotaxy Review for gene: CFAP52 was set to GREEN Added comment: Five unrelated families and functional data. Sources: Literature |
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