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| Cardiomyopathy_Paediatric v0.41 | ATAD3A | Zornitza Stark Marked gene: ATAD3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.41 | ATAD3A | Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.41 | ATAD3A | Zornitza Stark Phenotypes for gene: ATAD3A were changed from 618810 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810; perinatal cardiomyopathy; cataracts; corneal clouding | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.40 | ATAD3A | Zornitza Stark Publications for gene: ATAD3A were set to PMID: 32004445 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.39 | ATAD3A | Zornitza Stark Tag SV/CNV tag was added to gene: ATAD3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.39 | ATAD3A | Zornitza Stark Classified gene: ATAD3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.39 | ATAD3A | Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.38 | ATAD3A | John Christodoulou reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32004445, PMID: 27640307, PMID: 28549128, also Frazier et al, Med (in press); Phenotypes: Harel-Yoon syndrome, MIM# 617183, Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810, perinatal cardiomyopathy, cataracts, corneal clouding; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.38 | ATAD3A |
John Christodoulou gene: ATAD3A was added gene: ATAD3A was added to Cardiomyopathy_Paediatric. Sources: Literature,Expert Review Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to PMID: 32004445 Phenotypes for gene: ATAD3A were set to 618810 Penetrance for gene: ATAD3A were set to Complete |
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