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| Muscular dystrophy and myopathy_Paediatric v0.128 | COL12A1 |
Elena Savva changed review comment from: Additional infant proband but with limited clinical information, had chet canonical splice with a PTC. VCGS patient: homozygous for a canonical splice variant with a severe neonatal presentation of arthrogryposis and muscular hypotonia. Total: three reports, upgraded to green; to: Additional infant proband but with limited clinical information, had chet canonical splice with a PTC. VCGS patient: homozygous for a canonical splice variant with a severe neonatal presentation of arthrogryposis and muscular hypotonia. Total: three reports, upgraded to green |
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| Muscular dystrophy and myopathy_Paediatric v0.128 | COL12A1 |
Elena Savva changed review comment from: Additional infant proband but with limited clinical information, had chet canonical splice with a PTC; to: Additional infant proband but with limited clinical information, had chet canonical splice with a PTC. VCGS patient: homozygous for a canonical splice variant with a severe neonatal presentation of arthrogryposis and muscular hypotonia. Total: three reports, upgraded to green |
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| Muscular dystrophy and myopathy_Paediatric v0.128 | COL12A1 | Elena Savva Classified gene: COL12A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.128 | COL12A1 | Elena Savva Gene: col12a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.127 | COL12A1 | Elena Savva Publications for gene: COL12A1 were set to 24334604 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.127 | COL12A1 | Elena Savva Classified gene: COL12A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.127 | COL12A1 | Elena Savva Gene: col12a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.126 | COL12A1 | Elena Savva reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28973083, 24334604; Phenotypes: ?Ullrich congenital muscular dystrophy 2 MIM#616470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.113 | COL12A1 | Zornitza Stark Marked gene: COL12A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.113 | COL12A1 | Zornitza Stark Gene: col12a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.113 | COL12A1 | Zornitza Stark Phenotypes for gene: COL12A1 were changed from to Ullrich congenital muscular dystrophy 2 , MIM# 616470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.112 | COL12A1 | Zornitza Stark Publications for gene: COL12A1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.111 | COL12A1 | Zornitza Stark Mode of inheritance for gene: COL12A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.110 | COL12A1 | Zornitza Stark Classified gene: COL12A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.110 | COL12A1 | Zornitza Stark Gene: col12a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.109 | COL12A1 | Zornitza Stark reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24334604; Phenotypes: Ullrich congenital muscular dystrophy 2 , MIM# 616470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.0 | COL12A1 |
Zornitza Stark gene: COL12A1 was added gene: COL12A1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL12A1 was set to Unknown |
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