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Cerebral Palsy v1.234 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Cerebral Palsy v1.234 SOX10 Zornitza Stark Gene: sox10 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.234 SOX10 Zornitza Stark Classified gene: SOX10 as Red List (low evidence)
Cerebral Palsy v1.234 SOX10 Zornitza Stark Gene: sox10 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.194 SOX10 Clare van Eyk gene: SOX10 was added
gene: SOX10 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX10 were set to PMID: 38693247
Phenotypes for gene: SOX10 were set to PCWH syndrome, MIM#609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, MIM#611584
Review for gene: SOX10 was set to RED
Added comment: 1 individual with mono-allelic LOF (stopgain variant) reported in large-scale exome sequencing study (PMID: 38693247).
Sources: Literature