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Cerebral Palsy v1.244 PPM1D Zornitza Stark Marked gene: PPM1D as ready
Cerebral Palsy v1.244 PPM1D Zornitza Stark Gene: ppm1d has been classified as Red List (Low Evidence).
Cerebral Palsy v1.244 PPM1D Zornitza Stark Classified gene: PPM1D as Red List (low evidence)
Cerebral Palsy v1.244 PPM1D Zornitza Stark Gene: ppm1d has been classified as Red List (Low Evidence).
Cerebral Palsy v1.194 PPM1D Clare van Eyk gene: PPM1D was added
gene: PPM1D was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPM1D were set to PMID: 38693247
Phenotypes for gene: PPM1D were set to Jansen-de Vries syndrome, MIM#617450
Review for gene: PPM1D was set to RED
Added comment: 1 individual with mono-allelic splice variant reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature