Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.15 | PAX3 | Eleanor Williams Phenotypes for gene: PAX3 were changed from WAARDENBURG SYNDROME, TYPE 1; CRANIOFACIAL-DEAFNESS-HAND SYNDROME to Waardenburg syndrome, type 1, OMIM:193500; Waardenburg syndrome type 1, MONDO:0008670; Waardenburg syndrome, type 3, OMIM:148820; Waardenburg syndrome type 3, MONDO:0007862; Klein-Waardenburg syndromeCRANIOFACIAL-DEAFNESS-HAND SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.7 | PAX3 | Ida Ertmanska changed review comment from: Comment on list classification: There are now 2 cases reported with biallelic PAX3 variants and severe, early-onset "Waardenburg syndrome, type 3", otherwise known as Klein-Waardenburg syndrome, with multiple abnormalities detected on antenatal scans. Based on available evidence, the MOI should remain 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown', with "moi-watchlist" tag added in anticipation of further fetal reports.; to: Comment on list classification: There are now 2 cases reported with biallelic PAX3 variants and severe, early-onset "Waardenburg syndrome, type 3", otherwise known as Klein-Waardenburg syndrome, with multiple abnormalities detected on antenatal scans. Based on available evidence, the MOI should remain 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown', with a "watchlist_moi" tag added in anticipation of further fetal reports. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.7 | PAX3 | Ida Ertmanska Tag watchlist_moi tag was added to gene: PAX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.7 | PAX3 | Ida Ertmanska commented on gene: PAX3: Comment on list classification: There are now 2 cases reported with biallelic PAX3 variants and severe, early-onset "Waardenburg syndrome, type 3", otherwise known as Klein-Waardenburg syndrome, with multiple abnormalities detected on antenatal scans. Based on available evidence, the MOI should remain 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown', with "moi-watchlist" tag added in anticipation of further fetal reports. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.5 | PAX3 | Ida Ertmanska reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26443304, 35607853; Phenotypes: Waardenburg syndrome, type 1, OMIM:193500, Waardenburg syndrome type 1, MONDO:0008670, Waardenburg syndrome, type 3, OMIM:148820, Waardenburg syndrome type 3, MONDO:0007862, Klein-Waardenburg syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.153 | PAX3 | Rebecca Foulger edited their review of gene: PAX3: 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: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PAX3 | Rebecca Foulger reviewed gene: PAX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PAX3 | Rebecca Foulger Added phenotypes CRANIOFACIAL-DEAFNESS-HAND SYNDROME for gene: PAX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PAX3 |
Rebecca Foulger gene: PAX3 was added gene: PAX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX3 were set to WAARDENBURG SYNDROME, TYPE 1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||