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| Skeletal dysplasia v2.184 | ZNF687 |
Eleanor Williams Tag Q4_21_rating was removed from gene: ZNF687. Tag Q4_21_NHS_review was removed from gene: ZNF687. |
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| Skeletal dysplasia v2.184 | ZNF687 | Eleanor Williams commented on gene: ZNF687: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.183 | ZNF687 |
Eleanor Williams Source Expert Review Green was added to ZNF687. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Skeletal dysplasia v2.159 | ZNF687 | Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: ZNF687. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.154 | ZNF687 | Eleanor Williams Phenotypes for gene: ZNF687 were changed from Paget Disease of Bone with associated Giant Cell Tumour. to Paget disease of bone 6, OMIM:616833 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.153 | ZNF687 | Eleanor Williams Publications for gene: ZNF687 were set to PMID: 29493781, PMID: 28968976, PMID: 26849110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.152 | ZNF687 | Eleanor Williams Classified gene: ZNF687 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.152 | ZNF687 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber but with a recommendation for a green rating following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.152 | ZNF687 | Eleanor Williams Gene: znf687 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.151 | ZNF687 | Eleanor Williams Tag Q4_21_rating tag was added to gene: ZNF687. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.151 | ZNF687 | Eleanor Williams reviewed gene: ZNF687: Rating: GREEN; Mode of pathogenicity: None; Publications: 29493781, 26849110; Phenotypes: Paget disease of bone 6, OMIM:616833; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.141 | ZNF687 |
Adrienne Flanagan gene: ZNF687 was added gene: ZNF687 was added to Skeletal dysplasia. Sources: Other,Research Mode of inheritance for gene: ZNF687 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNF687 were set to PMID: 29493781, PMID: 28968976, PMID: 26849110 Phenotypes for gene: ZNF687 were set to Paget Disease of Bone with associated Giant Cell Tumour. Penetrance for gene: ZNF687 were set to unknown Mode of pathogenicity for gene: ZNF687 was set to Other Review for gene: ZNF687 was set to GREEN Added comment: Missense mutation c.2810C>G (p.Pro937Arg) alters the nuclear-ctyoplasmic balance of ZNF687 by generating a stronger nuclear localisation signal thereby acting as a gain-of-function mutation. Sources: Other, Research |
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