Activity
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| Fetal anomalies v6.152 | ZDHHC9 | Arina Puzriakova Added phenotypes Intellectual developmental disorder, X-linked syndromic, Raymond type, OMIM:300799 for gene: ZDHHC9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | ZDHHC9 | Arina Puzriakova commented on gene: ZDHHC9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | ZDHHC9 | Vicki Harrison reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Raymond type, OMIM:300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.144 | ZDHHC9 |
Arina Puzriakova Source Expert Review Amber was added to ZDHHC9. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.165 | ZDHHC9 |
Rebecca Foulger Source Expert Review Red was added to ZDHHC9. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.161 | ZDHHC9 | Rebecca Foulger edited their review of gene: ZDHHC9: 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: Phenotype is not fetally-relevant. Action taken: Demoted ZDHHC9 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ZDHHC9 | Rebecca Foulger reviewed gene: ZDHHC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ZDHHC9 |
Rebecca Foulger gene: ZDHHC9 was added gene: ZDHHC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED |
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