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| Fetal anomalies v2.10 | COL6A3 | Arina Puzriakova Tag Q4_21_MOI was removed from gene: COL6A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.10 | COL6A3 | Arina Puzriakova commented on gene: COL6A3: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.9 | COL6A3 |
Arina Puzriakova Source NHS GMS was added to COL6A3. Mode of inheritance for gene COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Fetal anomalies v1.742 | COL6A3 | Arina Puzriakova Phenotypes for gene: COL6A3 were changed from ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; DYSTONIA 27 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.741 | COL6A3 | Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS panel update. COL6A3 is associated with two relevant disorders, both of which show biallelic and monoallelic inheritance (Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.741 | COL6A3 | Arina Puzriakova Mode of inheritance for gene: COL6A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.740 | COL6A3 | Arina Puzriakova Tag Q4_21_MOI tag was added to gene: COL6A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.134 | COL6A3 | Rebecca Foulger edited their review of gene: COL6A3: 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 | COL6A3 | Rebecca Foulger reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL6A3 | Rebecca Foulger Added phenotypes ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 for gene: COL6A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COL6A3 |
Rebecca Foulger gene: COL6A3 was added gene: COL6A3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A3 were set to DYSTONIA 27 |
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