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Cerebral Palsy v1.339 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Cerebral Palsy v1.339 LRP2 Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.339 LRP2 Zornitza Stark Classified gene: LRP2 as Red List (low evidence)
Cerebral Palsy v1.339 LRP2 Zornitza Stark Gene: lrp2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.291 LRP2 Clare van Eyk gene: LRP2 was added
gene: LRP2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP2 were set to PMID: 38693247
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448
Review for gene: LRP2 was set to RED
Added comment: 1 individual reported with compound heterozygous predicted LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. DBS is associated with multiple congenital anomalies.
Sources: Literature