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Cerebral Palsy v1.193 GNAO1 Clare van Eyk reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v0.124 GNAO1 Zornitza Stark Marked gene: GNAO1 as ready
Cerebral Palsy v0.124 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.124 GNAO1 Zornitza Stark Classified gene: GNAO1 as Green List (high evidence)
Cerebral Palsy v0.124 GNAO1 Zornitza Stark Gene: gnao1 has been classified as Green List (High Evidence).
Cerebral Palsy v0.121 GNAO1 Danielle Ariti gene: GNAO1 was added
gene: GNAO1 was added to Cerebral Palsy. Sources: Expert list
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAO1 were set to 33528536; 34364746; 33098801
Phenotypes for gene: GNAO1 were set to Cerebral Palsy; Neurodevelopmental disorder with involuntary movements MIM# 617493
Review for gene: GNAO1 was set to GREEN
Added comment: >10 individuals in CP cohort reported with mono-allelic (de novo) GNAO1variants.
The majority of these individuals were diagnosed with Dyskinetic CP displaying progressive movement disorder (dystonia, athetosis and chorea), ID and often seizures.
Sources: Expert list