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| Fetal anomalies v0.4527 | PPP2R5C | Zornitza Stark Marked gene: PPP2R5C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4527 | PPP2R5C | Zornitza Stark Gene: ppp2r5c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4527 | PPP2R5C | Zornitza Stark Classified gene: PPP2R5C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4527 | PPP2R5C | Zornitza Stark Gene: ppp2r5c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4392 | PPP2R5C |
Krithika Murali gene: PPP2R5C was added gene: PPP2R5C was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PPP2R5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2R5C were set to 25972378 Phenotypes for gene: PPP2R5C were set to macrocephaly; overgrowth Review for gene: PPP2R5C was set to AMBER Added comment: x1 case only in the literature with relative macrocephaly noted at birth. PMID: 25972378 - Loveday et al 2015 undertook trio exome sequencing in children with an overgrowth syndrome phenotype with unaffected parents. One individual with a de novo PPP2R5C c.468_470delAAC p.Thr157del variant identified. The proband had moderate ID, was born at 37 weeks gestation weighing 3100g (0.8SD) with a head circumference of 36cm (2.4SD). Sources: Literature |
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