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Fetal anomalies v0.318 | POMK | Rebecca Foulger edited their review of gene: POMK: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.284 | POMK | Rebecca Foulger Marked gene: POMK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.284 | POMK | Rebecca Foulger Gene: pomk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.214 | POMK | Rebecca Foulger Classified gene: POMK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.214 | POMK | Rebecca Foulger Gene: pomk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.213 | POMK | Rebecca Foulger Classified gene: POMK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.213 | POMK | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Fetally-relevant phenotype (hydrocephalus and macrocephaly detected in utero in patient in PMID:24925318) plus sufficient cases in literature/OMIM to support causation. Plus POMK is rated Green on PanelApp panels including Congenital muscular dystrophy/Hydrocephalus/Arthrogryposis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.213 | POMK | Rebecca Foulger Gene: pomk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.212 | POMK | Rebecca Foulger Publications for gene: POMK were set to 23519211; 24925318 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.211 | POMK | Rebecca Foulger Added comment: Comment on publications: POMK is called SGK196 in PMID:23519211. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.211 | POMK | Rebecca Foulger Publications for gene: POMK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.210 | POMK | Rebecca Foulger commented on gene: POMK: Patient 3 in PMID:24925318 (Di Costanzo et al, 2014) was an Italian male presenting with the most severe form of dystroglycanopathy, Walker–Warburg syndrome (WWS) and compound het variants in POMK. Macrocephaly and hydrocephalus were diagnosed in utero upon prenatal ultrasound at 32 weeks of gestation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.210 | POMK | Rebecca Foulger commented on gene: POMK: POMK was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) POMK is listed as an Additional gene based on association with a prenatal phenotype reported in the literature (Supplementary Table 2). POMK is not currently associated with a disorder in DD-Gene2Phenotype but is associated with 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249' in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | POMK | Rebecca Foulger reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | POMK |
Rebecca Foulger gene: POMK was added gene: POMK was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249 |