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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)
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 v0.9 DHH Rebecca Foulger reviewed gene: DHH: 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
Fetal anomalies v0.1 DHH Rebecca Foulger Added phenotypes 46XY sex reversal 7 for gene: DHH
Fetal anomalies v0.1 DHH Rebecca Foulger gene: DHH was added
gene: DHH was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red
Mode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy