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Cerebral Palsy v2.0 GABBR2 Gene migrated from ENSG00000136928 to ENSG00000136928 (gene set migration)
Cerebral Palsy v1.266 GABBR2 Zornitza Stark Marked gene: GABBR2 as ready
Cerebral Palsy v1.266 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.266 GABBR2 Zornitza Stark Classified gene: GABBR2 as Red List (low evidence)
Cerebral Palsy v1.266 GABBR2 Zornitza Stark Gene: gabbr2 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.193 GABBR2 Clare van Eyk gene: GABBR2 was added
gene: GABBR2 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR2 were set to PMID: 38693247
Phenotypes for gene: GABBR2 were set to Developmental and epileptic encephalopathy 59, MIM#617904; Neurodevelopmental disorder with poor language and loss of hand skills, MIM#617903
Review for gene: GABBR2 was set to AMBER
Added comment: 1 individual with mono-allelic LP missense variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature