Activity
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| Fetal anomalies v4.192 | GDF11 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GDF11. Tag Q3_24_NHS_review was removed from gene: GDF11. |
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| Fetal anomalies v4.192 | GDF11 | Achchuthan Shanmugasundram edited their review of gene: GDF11: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | GDF11 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GDF11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.56 | GDF11 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GDF11. Tag Q3_24_NHS_review tag was added to gene: GDF11. |
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| Fetal anomalies v4.36 | GDF11 | Achchuthan Shanmugasundram commented on gene: GDF11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GDF11 | Lyn Chitty reviewed gene: GDF11: Rating: GREEN; Mode of pathogenicity: ; Publications: 31215115, 34113007; Phenotypes: ?Vertebral hypersegmentation and orofacial anomalies, OMIM:619122; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | GDF11 |
Achchuthan Shanmugasundram gene: GDF11 was added gene: GDF11 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GDF11 were set to 31215115; 34113007 Phenotypes for gene: GDF11 were set to ?Vertebral hypersegmentation and orofacial anomalies, OMIM:619122 |
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| Fetal anomalies v1.984 | GDF1 | Arina Puzriakova Phenotypes for gene: GDF1 were changed from Congenital heart defects, multiple types; Right atrial isomerism (Ivemark) to Congenital heart defects, multiple types, 6, OMIM:613854; Right atrial isomerism (Ivemark), OMIM:208530 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.79 | GDF1 | Catherine Snow Classified gene: GDF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.79 | GDF1 | Catherine Snow Added comment: Comment on list classification: Rating as Green following expert review from Rhiannon Mellis (Great Ormond Street Hospital) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.79 | GDF1 | Catherine Snow Gene: gdf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.73 | GDF1 |
Rhiannon Mellis gene: GDF1 was added gene: GDF1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDF1 were set to PMID: 20413652; 28991257; 17924340 Phenotypes for gene: GDF1 were set to Congenital heart defects, multiple types; Right atrial isomerism (Ivemark) Review for gene: GDF1 was set to GREEN Added comment: Right atrial isomerism (AR): 5 sibs in one family PMID: 20413652; One unrelated individual with RAI, complex cardiac anomalies, abdominal heterotaxy and asplenia PMID: 28991257 Other varied CHD (including ToF, DORV, TGA) (AD): 8 unrelated individuals PMID 17924340 Reviewed for fetally relevant phenotype by Prof Lyn Chitty (Yes) This gene appears on our local heterotaxy panel (NETRGL) and as Green on Panelapp Laterality disorders panel and Familial non-syndromic CHD panel. Sources: Literature, Expert Review |
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