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| Fetal anomalies v0.3388 | MRPS34 | Zornitza Stark Marked gene: MRPS34 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3388 | MRPS34 | Zornitza Stark Gene: mrps34 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3388 | MRPS34 | Zornitza Stark Phenotypes for gene: MRPS34 were changed from Leigh Syndrome with Instability of the Small Mitoribosomal Subunit to Combined oxidative phosphorylation deficiency 32, MIM# 617664 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3387 | MRPS34 | Zornitza Stark Publications for gene: MRPS34 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3386 | MRPS34 |
Zornitza Stark changed review comment from: Six individuals from 4 unrelated families; clinical presentation is with developmental delay/regression. More variable features include movement disorders, microcephaly, strabismus, nystagmus, optic atrophy. Sources: Expert list; to: Six individuals from 4 unrelated families; clinical presentation is with developmental delay/regression. More variable features include movement disorders, microcephaly, strabismus, nystagmus, optic atrophy. Onset of microcephaly uncertain, other clinical features present post-natally. Sources: Expert list |
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| Fetal anomalies v0.3386 | MRPS34 | Zornitza Stark edited their review of gene: MRPS34: Changed rating: AMBER; Changed phenotypes: Combined oxidative phosphorylation deficiency 32, MIM# 617664 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | MRPS34 |
Zornitza Stark gene: MRPS34 was added gene: MRPS34 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS34 were set to Leigh Syndrome with Instability of the Small Mitoribosomal Subunit |
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