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Cerebral Palsy v1.261 KCNH1 Zornitza Stark Marked gene: KCNH1 as ready
Cerebral Palsy v1.261 KCNH1 Zornitza Stark Gene: kcnh1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.261 KCNH1 Zornitza Stark Classified gene: KCNH1 as Red List (low evidence)
Cerebral Palsy v1.261 KCNH1 Zornitza Stark Gene: kcnh1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.193 KCNH1 Clare van Eyk gene: KCNH1 was added
gene: KCNH1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH1 were set to PMID: 38693247
Phenotypes for gene: KCNH1 were set to Temple-Baraitser syndrome, MIM#611816; Zimmermann-Laband syndrome 1, MIM#135500
Review for gene: KCNH1 was set to AMBER
Added comment: 4 individuals with mono-allelic LP missense variants and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Sources: Literature