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| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 | HNRNPK |
Eleanor Williams Tag Q3_21_rating was removed from gene: HNRNPK. Tag Q1_22_NHS_review was removed from gene: HNRNPK. |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.65 | HNRNPK | Eleanor Williams commented on gene: HNRNPK: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.64 | HNRNPK |
Eleanor Williams Source Expert Review Green was added to HNRNPK. 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 | HNRNPK | Eleanor Williams Tag Q1_22_NHS_review tag was added to gene: HNRNPK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.61 | HNRNPK | Eleanor Williams commented on gene: HNRNPK: Review and publication noted by Helen Lord adds further weight to rating this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.61 | HNRNPK | Eleanor Williams Added comment: Comment on publications: Added further paper PMID:32588992 - Yamada et al 2020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.61 | HNRNPK | Eleanor Williams Publications for gene: HNRNPK were set to 26173930; 26954065; 28771707; 29904177; 24501764; 25348648; 28374925 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.60 | HNRNPK | Helen Lord reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32588992; Phenotypes: Au Kline syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.60 | HNRNPK | Ivone Leong Tag Q3_21_rating tag was added to gene: HNRNPK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.36 | HNRNPK | Eleanor Williams Classified gene: HNRNPK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.36 | HNRNPK | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber, with a recommendation for green rating following GMS review. 4 cases reported with craniosynostosis and variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.36 | HNRNPK | Eleanor Williams Gene: hnrnpk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.35 | HNRNPK | Eleanor Williams Phenotypes for gene: HNRNPK were changed from Au-Kline syndrome, MIM# 616580 to Au-Kline syndrome, OMIM:616580 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.34 | HNRNPK | Eleanor Williams Publications for gene: HNRNPK were set to 26173930; 26954065; 29904177 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.33 | HNRNPK | Eleanor Williams reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 26173930, 26954065, 28771707, 29904177, 24501764, 25348648, 28374925; Phenotypes: Au-Kline syndrome, OMIM:616580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v2.9 | HNRNPK |
Zornitza Stark gene: HNRNPK was added gene: HNRNPK was added to Craniosynostosis. Sources: Expert list Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPK were set to 26173930; 26954065; 29904177 Phenotypes for gene: HNRNPK were set to Au-Kline syndrome, MIM# 616580 Review for gene: HNRNPK was set to GREEN gene: HNRNPK was marked as current diagnostic Added comment: Multiple unrelated individuals with Au-Kline syndrome (approx 1/3) have craniosynostosis - sagittal, metopic, lambdoid. Sources: Expert list |
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