Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Paediatric disorders - additional genes v0.37 | CFAP53 | Ellen McDonagh Marked gene: CFAP53 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.37 | CFAP53 | Ellen McDonagh Gene: cfap53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.37 | CFAP53 | Ellen McDonagh Classified gene: CFAP53 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.37 | CFAP53 | Ellen McDonagh Added comment: Comment on list classification: This gene is Green on the Familial non syndromic congenital heart disease (panel 212 version 1.49). Promoted from Red to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.37 | CFAP53 | Ellen McDonagh Gene: cfap53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.35 | CFAP53 | Ellen McDonagh reviewed gene: CFAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Heterotaxy, visceral, 6, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric disorders - additional genes v0.34 | CFAP53 |
Ellen McDonagh gene: CFAP53 was added gene: CFAP53 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive |