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| Fetal anomalies v3.111 | SCUBE3 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: SCUBE3. Tag Q2_23_NHS_review was removed from gene: SCUBE3. |
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| Fetal anomalies v3.111 | SCUBE3 | Sarah Leigh edited their review of gene: SCUBE3: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.110 | SCUBE3 |
Sarah Leigh Source Expert Review Green was added to SCUBE3. Source NHS GMS was added to SCUBE3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v3.80 | SCUBE3 | Arina Puzriakova Classified gene: SCUBE3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.80 | SCUBE3 | Arina Puzriakova Added comment: Comment on list classification: Confirmed with Stephanie Allen that the GMS Fetal expert group determined there is sufficient evidence to classify this gene as Green (9th May 2023). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.80 | SCUBE3 | Arina Puzriakova Gene: scube3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.79 | SCUBE3 |
Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: SCUBE3. Tag Q3_22_rating was removed from gene: SCUBE3. Tag Q3_22_expert_review was removed from gene: SCUBE3. |
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| Fetal anomalies v3.72 | SCUBE3 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: SCUBE3. Tag Q2_23_NHS_review tag was added to gene: SCUBE3. |
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| Fetal anomalies v3.8 | SCUBE3 | Stephanie Allen commented on gene: SCUBE3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.10 | SCUBE3 | Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: SCUBE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.10 | SCUBE3 | Arina Puzriakova commented on gene: SCUBE3: The to_be_confirmed_NHSE tag has been added, as further NHSE review is required before promoting this gene to green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.974 | SCUBE3 | Eleanor Williams commented on gene: SCUBE3: Updating tags to be Q3_22_expert_review and Q3_22_rating so that gene is included in the next GMS report (Oct 2022) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.974 | SCUBE3 |
Eleanor Williams Tag Q4_21_expert_review was removed from gene: SCUBE3. Tag Q3_22_rating tag was added to gene: SCUBE3. Tag Q3_22_expert_review tag was added to gene: SCUBE3. |
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| Fetal anomalies v1.728 | SCUBE3 | Sarah Leigh Phenotypes for gene: SCUBE3 were changed from Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.727 | SCUBE3 | Sarah Leigh Tag Q4_21_expert_review tag was added to gene: SCUBE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.727 | SCUBE3 | Sarah Leigh Tag Q2_21_rating was removed from gene: SCUBE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.727 | SCUBE3 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in 5 unrelated cases, together with supportive functional and mouse model studies (PMID 33308444).; to: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. PMID 33308444 reports eight SCUBE variants in nine unrelated families, including eighteen affected members. In vtro studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, resulting in dysregulation on bone morphogenetic protein (BMP) signaling and a Scube3−/− mouse showed shared phenotypic features with OMIM:619184. Prenatal growth retardation was evident in 8/11 relevant cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.727 | SCUBE3 | Sarah Leigh Entity copied from Skeletal dysplasia v2.136 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.727 | SCUBE3 |
Sarah Leigh gene: SCUBE3 was added gene: SCUBE3 was added to Fetal anomalies. Sources: Expert Review Amber,Other Q2_21_rating tags were added to gene: SCUBE3. Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCUBE3 were set to 33308444 Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 Penetrance for gene: SCUBE3 were set to unknown |
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