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Fetal anomalies v2.7 | PAFAH1B1 | Arina Puzriakova Phenotypes for gene: PAFAH1B1 were changed from LISSENCEPHALY TYPE 1; SUBCORTICAL BAND HETEROTOPIA to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.153 | PAFAH1B1 | Rebecca Foulger edited their review of gene: PAFAH1B1: 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: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PAFAH1B1 | Rebecca Foulger reviewed gene: PAFAH1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PAFAH1B1 | Rebecca Foulger Added phenotypes SUBCORTICAL BAND HETEROTOPIA for gene: PAFAH1B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PAFAH1B1 |
Rebecca Foulger gene: PAFAH1B1 was added gene: PAFAH1B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAFAH1B1 were set to LISSENCEPHALY TYPE 1 |