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Cerebral Palsy v1.348 GATAD2B Clare van Eyk edited their review of gene: GATAD2B: Added comment: Additional case with de novo heterozygous LP variant described in WGS study of clinically confirmed CP (PMID: 38553553). Same variant previously reported pathogenic from clinical testing in ClinVar, but no phenotypic data.; Changed publications: PMID: 38693247, PMID: 38553553
Cerebral Palsy v1.265 GATAD2B Zornitza Stark Marked gene: GATAD2B as ready
Cerebral Palsy v1.265 GATAD2B Zornitza Stark Gene: gatad2b has been classified as Red List (Low Evidence).
Cerebral Palsy v1.265 GATAD2B Zornitza Stark Classified gene: GATAD2B as Red List (low evidence)
Cerebral Palsy v1.265 GATAD2B Zornitza Stark Gene: gatad2b has been classified as Red List (Low Evidence).
Cerebral Palsy v1.193 GATAD2B Clare van Eyk gene: GATAD2B was added
gene: GATAD2B was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATAD2B were set to PMID: 38693247
Phenotypes for gene: GATAD2B were set to GAND syndrome, MIM#615076
Review for gene: GATAD2B was set to AMBER
Added comment: 2 individuals with mono-allelic stopgain variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. Some clinical overlap with CP.
Sources: Literature