Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Fetal anomalies v3.126 | PRX |
Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'both mono- and biallelic' to 'biallelic' as only recessive cases have been reported in literature. OMIM states AD/AR inheritance for Dejerine-Sottas disease as this can be caused by both heterozygous and homozygous variants in other genes (e.g. PMP22, EGR2) but seemingly not in PRX. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.9 | PMP22 | Rebecca Foulger reviewed gene: PMP22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PMP22 | Rebecca Foulger Added phenotypes Roussy-Levy syndrome 180800 for gene: PMP22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PMP22 | Rebecca Foulger Added phenotypes Neuropathy, recurrent, with pressure palsies 162500 for gene: PMP22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PMP22 | Rebecca Foulger Added phenotypes Neuropathy, inflammatory demyelinating 139393 for gene: PMP22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PMP22 | Rebecca Foulger Added phenotypes Dejerine-Sottas disease 145900 for gene: PMP22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PMP22 | Rebecca Foulger Added phenotypes Charcot-Marie-Tooth disease, type 1E 118300 for gene: PMP22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1 | PMP22 |
Rebecca Foulger gene: PMP22 was added gene: PMP22 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: PMP22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease, type 1A 118220 |