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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 | RSPRY1 | Eleanor Williams Tag Q2_23_promote_green was removed from gene: RSPRY1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.174 | RSPRY1 | Eleanor Williams edited their review of gene: RSPRY1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.173 | RSPRY1 |
Eleanor Williams Source Expert Review Green was added to RSPRY1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.87 | RSPRY1 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating in the next GMS update.; to: Comment on list classification: There is sufficient evidence (3 unrelated cases) for this gene to be promoted to GREEN rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.87 | RSPRY1 |
Achchuthan Shanmugasundram changed review comment from: As reviewed by Rebecca Tooze, craniosynostosis was reported in a family of four affected individuals identified with homozygous variants in RSPRY1 from PMID:26365341, and in three out of four affected individuals from a family and another unrelated individual with RSPRY1 variants from PMID:30063090. Although the phenotype is not fully penetrant from the family of four cases from PMID:30063090, this gene can be rated GREEN on the basis of the presence of phenotype in three unrelated cases and the phenotype being fully penetrant from the family reported in PMID:26365341. This gene has been associated with relevant phenotypes in both OMIM (MIM #616723) and Gene2Phenotype (with 'strong' rating in the DD panel).; to: As reviewed by Rebecca Tooze, craniosynostosis was reported in a family of four affected individuals identified with homozygous variants in RSPRY1 from PMID:26365341, and in three out of four affected individuals from a family and another unrelated individual with RSPRY1 variants from PMID:30063090. This gene has been associated with relevant phenotypes in both OMIM (MIM #616723) and Gene2Phenotype (with 'strong' rating in the DD panel). |
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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.87 | RSPRY1 | Achchuthan Shanmugasundram Classified gene: RSPRY1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.87 | RSPRY1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.87 | RSPRY1 | Achchuthan Shanmugasundram Gene: rspry1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.86 | RSPRY1 |
Achchuthan Shanmugasundram changed review comment from: As reviewed by Rebecca Tooze, craniosynostosis was reported in a family of four affected individuals identified with homozygous variants in RSPRY1 from PMID:26365341, and in three out of four affected individuals from a family and another unrelated individual with RSPRY1 variants from PMID:30063090. Although the phenotype is not fully penetrant from the family of four cases from PMID:30063090, this gene can be rated GREEN on the basis of the presence of phenotype in three unrelated cases and the phenotype being fully penetrant from the family reported in PMID:26365341.; to: As reviewed by Rebecca Tooze, craniosynostosis was reported in a family of four affected individuals identified with homozygous variants in RSPRY1 from PMID:26365341, and in three out of four affected individuals from a family and another unrelated individual with RSPRY1 variants from PMID:30063090. Although the phenotype is not fully penetrant from the family of four cases from PMID:30063090, this gene can be rated GREEN on the basis of the presence of phenotype in three unrelated cases and the phenotype being fully penetrant from the family reported in PMID:26365341. This gene has been associated with relevant phenotypes in both OMIM (MIM #616723) and Gene2Phenotype (with 'strong' rating in the DD panel). |
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Rare syndromic craniosynostosis or isolated multisuture synostosis v4.86 | RSPRY1 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: RSPRY1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.86 | RSPRY1 | Achchuthan Shanmugasundram Phenotypes for gene: RSPRY1 were changed from to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.85 | RSPRY1 | Achchuthan Shanmugasundram Publications for gene: RSPRY1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.84 | RSPRY1 | Achchuthan Shanmugasundram Mode of inheritance for gene: RSPRY1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.83 | RSPRY1 | Achchuthan Shanmugasundram Classified gene: RSPRY1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.83 | RSPRY1 | Achchuthan Shanmugasundram Gene: rspry1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.82 | RSPRY1 | Achchuthan Shanmugasundram changed review comment from: As reviewed by Rebecca Tooze, craniosynostosis was reported in a family of four affected individuals identified with homozygous variants in RSPRY1 from PMID:26365341, and in three out of four affected individuals from a family and another unrelated individual with RSPRY1 variants from PMID:30063090. Although the phenotype is not fully penetrant from the family of four cases from PMID:30063090, this gene can be rated GREEN on the basis of the presence of phenotype in three unrelated cases.; to: As reviewed by Rebecca Tooze, craniosynostosis was reported in a family of four affected individuals identified with homozygous variants in RSPRY1 from PMID:26365341, and in three out of four affected individuals from a family and another unrelated individual with RSPRY1 variants from PMID:30063090. Although the phenotype is not fully penetrant from the family of four cases from PMID:30063090, this gene can be rated GREEN on the basis of the presence of phenotype in three unrelated cases and the phenotype being fully penetrant from the family reported in PMID:26365341. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.82 | RSPRY1 | Achchuthan Shanmugasundram edited their review of gene: RSPRY1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v4.82 | RSPRY1 | Achchuthan Shanmugasundram reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365341, 30063090; Phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v3.4 | RSPRY1 | Rebecca Tooze reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | RSPRY1 | Tracy Lester reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | RSPRY1 | Eleanor Williams reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | RSPRY1 |
Eleanor Williams gene: RSPRY1 was added gene: RSPRY1 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: RSPRY1 was set to |