Activity
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| Fetal anomalies v5.63 | STAG1 | Achchuthan Shanmugasundram Phenotypes for gene: STAG1 were changed from Intellectual developmental disorder, autosomal dominant 47, OMIM:617635; STAG1 syndromic intellectual disability to Intellectual developmental disorder, autosomal dominant 47, OMIM:617635 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | STAG1 | Achchuthan Shanmugasundram commented on gene: STAG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | STAG1 | Natalie Bibb reviewed gene: STAG1: Rating: RED; Mode of pathogenicity: ; Publications: 39224759, 34440290, 28119487; Phenotypes: Intellectual developmental disorder, autosomal dominant 47, MIM#617635; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | STAG1 |
Achchuthan Shanmugasundram Source NHS GMS was added to STAG1. Mode of inheritance for gene STAG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes Intellectual developmental disorder, autosomal dominant 47, OMIM:617635 for gene: STAG1 Publications for gene: STAG1 were updated from to 28119487; 39224759; 34440290 |
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| Fetal anomalies v0.165 | STAG1 |
Rebecca Foulger Source Expert Review Red was added to STAG1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.161 | STAG1 | Rebecca Foulger edited their review of gene: STAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted STAG1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | STAG1 | Rebecca Foulger reviewed gene: STAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | STAG1 |
Rebecca Foulger gene: STAG1 was added gene: STAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: STAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STAG1 were set to STAG1 syndromic intellectual disability |
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