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Cerebral Palsy v2.0 SMG8 Gene migrated from ENSG00000167447 to ENSG00000167447 (gene set migration)
Cerebral Palsy v1.385 SMG8 Zornitza Stark Marked gene: SMG8 as ready
Cerebral Palsy v1.385 SMG8 Zornitza Stark Gene: smg8 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.385 SMG8 Zornitza Stark Classified gene: SMG8 as Red List (low evidence)
Cerebral Palsy v1.385 SMG8 Zornitza Stark Gene: smg8 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.367 SMG8 Clare van Eyk gene: SMG8 was added
gene: SMG8 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to PMID: 39213953
Phenotypes for gene: SMG8 were set to Alzahrani-Kuwahara syndrome, MIM#619268
Review for gene: SMG8 was set to RED
Added comment: Single individual with biallelic variants in SMG8 reported in a monocentric CP cohort study (PMID: 39213953). Clinically, spastic CP with DD, ID, peripheral hypertonia, dysmorphic features.
Sources: Literature