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| Fetal anomalies v0.4194 | PLEKHM1 | Zornitza Stark Marked gene: PLEKHM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4194 | PLEKHM1 | Zornitza Stark Gene: plekhm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4194 | PLEKHM1 | Zornitza Stark Phenotypes for gene: PLEKHM1 were changed from ?Osteopetrosis, autosomal recessive 6 - MIM#611497; Osteopetrosis, autosomal dominant 3 - MIM#618107 to Osteopetrosis, autosomal recessive 6 - MIM#611497; Osteopetrosis, autosomal dominant 3 - MIM#618107 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4193 | PLEKHM1 | Zornitza Stark Classified gene: PLEKHM1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4193 | PLEKHM1 | Zornitza Stark Gene: plekhm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4132 | PLEKHM1 |
Krithika Murali gene: PLEKHM1 was added gene: PLEKHM1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLEKHM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLEKHM1 were set to 17404618; 17997709; 27291868; 27777970; 28290981 Phenotypes for gene: PLEKHM1 were set to ?Osteopetrosis, autosomal recessive 6 - MIM#611497; Osteopetrosis, autosomal dominant 3 - MIM#618107 Review for gene: PLEKHM1 was set to RED Added comment: No antenatal features reported. -- PMID: 17997709 Del Fattore et al 2008 - female proband with monoallelic variant, no antenatal features reported. PMID: 27291868 Bo et al 2016 - male proband with osteopetrosis and heterozygous de novo variant. No antenatal features reported. PMID: 28290981 Moore et al 2017 - compound het variants, osteopetrosis diagnosis in a 19 year old. No antenatal features reported. PMID: 21054159 Almarzooqi et al 2010 - heterozygous variant, infantile osteopetrosis and xanthogranuloma, uncomplicated pregnancy. Sources: Literature |
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