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| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 | ZNF462 |
Eleanor Williams Tag Q3_21_rating was removed from gene: ZNF462. Tag Q1_22_NHS_review was removed from gene: ZNF462. |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 | ZNF462 | Eleanor Williams commented on gene: ZNF462: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 | ZNF462 |
Eleanor Williams Source Expert Review Green was added to ZNF462. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.61 | ZNF462 | Eleanor Williams commented on gene: ZNF462: Helen Lord review concurs with proposed green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.61 | ZNF462 | Eleanor Williams Tag Q1_22_NHS_review tag was added to gene: ZNF462. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.60 | ZNF462 | Helen Lord reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: 28513610, 31361404; Phenotypes: Weiss Kruszka syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.43 | ZNF462 | Eleanor Williams Classified gene: ZNF462 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.43 | ZNF462 | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, but with a recommendation for green rating following GMS review. Metopic ridging or craniosynostosis reported in 6 cases with a plausible disease causing variant in ZNF462. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.43 | ZNF462 | Eleanor Williams Gene: znf462 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.42 | ZNF462 | Eleanor Williams Phenotypes for gene: ZNF462 were changed from Weiss-Kruszka syndrome, MIM# 618619 to Weiss-Kruszka syndrome, OMIM:618619; weiss-kruszka syndrome, MONDO:0032836 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.41 | ZNF462 | Eleanor Williams Publications for gene: ZNF462 were set to 28513610 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.40 | ZNF462 | Eleanor Williams Tag Q3_21_rating tag was added to gene: ZNF462. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.40 | ZNF462 | Eleanor Williams reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: None; Publications: 28513610, 31361404; Phenotypes: Weiss-Kruszka syndrome, OMIM:618619, weiss-kruszka syndrome, MONDO:0032836; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.9 | ZNF462 |
Zornitza Stark gene: ZNF462 was added gene: ZNF462 was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNF462 were set to 28513610 Phenotypes for gene: ZNF462 were set to Weiss-Kruszka syndrome, MIM# 618619 Review for gene: ZNF462 was set to GREEN gene: ZNF462 was marked as current diagnostic Added comment: Craniosynostosis observed in 38% of affected individuals. Sources: Expert list |
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