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Intellectual disability - microarray and sequencing v2.1035 | PAX7 | Louise Daugherty changed review comment from: Comment on list classification: removed from panel, this gene is not relevant for this panel; to: Comment on list classification: downgraded to Red again, this gene is not pertinent. I have left the gene on the panel as the gene is on the ID panel from the Victorian Clinical Genetics Services | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1035 | PAX7 | Louise Daugherty Classified gene: PAX7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1035 | PAX7 | Louise Daugherty Gene: pax7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1034 | PAX7 | Louise Daugherty Classified gene: PAX7 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1034 | PAX7 | Louise Daugherty Added comment: Comment on list classification: removed from panel, this gene is not relevant for this panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1034 | PAX7 | Louise Daugherty Gene: pax7 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1033 | PAX7 | Louise Daugherty edited their review of gene: PAX7: Added comment: changed rating agree with external reviewer (Konstantinos Varvagiannis this gene is RED for ID but GREEN for Neuromuscular disorders; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1033 | PAX7 | Konstantinos Varvagiannis changed review comment from: All affected individuals reported to date had normal cognitive development. (From Feichtinger et al - PMID: 31092906 : "Cognitive development, socialization, and behavior are normal in all patients").; to: From Feichtinger et al - PMID: 31092906 : "Cognitive development, socialization, and behavior are normal in all patients". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1033 | PAX7 | Konstantinos Varvagiannis reviewed gene: PAX7: Rating: RED; Mode of pathogenicity: None; Publications: 31092906; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1033 | PAX7 | Konstantinos Varvagiannis Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1033 | PAX7 | Konstantinos Varvagiannis reviewed gene: PAX7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1033 | PAX7 | Louise Daugherty Phenotypes for gene: PAX7 were changed from to Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones; Myopathy, congenital, progressive, with scoliosis, 618578 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1032 | PAX7 | Louise Daugherty Added comment: Comment on publications: Added publication to support gene-disease association | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1032 | PAX7 | Louise Daugherty Publications for gene: PAX7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1031 | PAX7 | Louise Daugherty Classified gene: PAX7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1031 | PAX7 | Louise Daugherty Added comment: Comment on list classification: New gene added by external expert (Cristina Dias (The Francis Crick Institute) ) on Neuromuscular disorders panel v1.6 and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1031 | PAX7 | Louise Daugherty Gene: pax7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1030 | PAX7 | Louise Daugherty Mode of inheritance for gene: PAX7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1030 | PAX7 | Louise Daugherty edited their review of gene: PAX7: Changed publications: 31092906 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1030 | PAX7 | Louise Daugherty Mode of inheritance for gene: PAX7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1030 | PAX7 | Louise Daugherty Mode of inheritance for gene: PAX7 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.1029 | PAX7 | Louise Daugherty reviewed gene: PAX7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotonia, Axial hypotonia, Ptosis, Scoliosis, Delayed motor milestones, Myopathy, congenital, progressive, with scoliosis, 618578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.468 | PAX7 |
Louise Daugherty gene: PAX7 was added gene: PAX7 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: PAX7 was set to |