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| Cerebellar and Pontocerebellar Hypoplasia v1.42 | KIF26B | Zornitza Stark Marked gene: KIF26B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.42 | KIF26B | Zornitza Stark Gene: kif26b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.42 | KIF26B |
Zornitza Stark gene: KIF26B was added gene: KIF26B was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF26B were set to 30151950 Phenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis Review for gene: KIF26B was set to RED Added comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. Sources: Expert Review |
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| Cerebellar and Pontocerebellar Hypoplasia v1.36 | AL592103.1 |
Chirag Patel gene: AL592103.1 was added gene: AL592103.1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: AL592103.1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AL592103.1 were set to PMID: 30151950 Phenotypes for gene: AL592103.1 were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis Review for gene: AL592103.1 was set to RED Added comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. Sources: Literature |
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