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| Fetal anomalies v1.836 | COL12A1 | Arina Puzriakova Tag for-review was removed from gene: COL12A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.836 | COL12A1 | Arina Puzriakova commented on gene: COL12A1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.835 | COL12A1 |
Arina Puzriakova Source Expert Review Green was added to COL12A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v1.315 | COL12A1 | Arina Puzriakova Classified gene: COL12A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.315 | COL12A1 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.315 | COL12A1 | Arina Puzriakova Gene: col12a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.314 | COL12A1 | Arina Puzriakova Tag for-review tag was added to gene: COL12A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.228 | COL12A1 |
Rhiannon Mellis gene: COL12A1 was added gene: COL12A1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL12A1 were set to Bethlem myopathy 2, 616471; ?Ullrich congenital muscular dystrophy 2, 616470 Review for gene: COL12A1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis Additional comment: At least three affected families with Bethlem myopathy which is associated with early contractures (?congenital) as well as two brothers with Ulrich congenital muscular dystrophy which is associated with arthrogryposis Sources: Expert list |
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