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| Fetal anomalies v0.331 | PDHA1 | Rebecca Foulger Phenotypes for gene: PDHA1 were changed from X-LINKED LEIGH SYNDROME; PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; INTELLECTUAL DISABILTIY to Pyruvate dehydrogenase E1-alpha deficiency; X-LINKED LEIGH SYNDROME; PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; INTELLECTUAL DISABILTIY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.330 | PDHA1 | Rebecca Foulger Publications for gene: PDHA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.329 | PDHA1 | Rebecca Foulger commented on gene: PDHA1: Kept rating of PDHA1 as Green based on Green review by Anna de Burca, and agreement with Richard Scott from the Genomics England Clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.295 | PDHA1 | Anna de Burca reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26865159; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PDHA1 | Rebecca Foulger commented on gene: PDHA1: DDG2P rating in original PAGE list: Confirmed for X-LINKED LEIGH SYNDROME, Confirmed for PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, and Confirmed for INTELLECTUAL DISABILTIY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | PDHA1 | Rebecca Foulger reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PDHA1 | Rebecca Foulger Added phenotypes INTELLECTUAL DISABILTIY for gene: PDHA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PDHA1 | Rebecca Foulger Added phenotypes PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES for gene: PDHA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PDHA1 |
Rebecca Foulger gene: PDHA1 was added gene: PDHA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PDHA1 were set to X-LINKED LEIGH SYNDROME |
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