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| Cerebellar and Pontocerebellar Hypoplasia v1.82 | MAPK8IP3 | Chirag Patel Classified gene: MAPK8IP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.82 | MAPK8IP3 | Chirag Patel Gene: mapk8ip3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.81 | MAPK8IP3 |
Chirag Patel gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAPK8IP3 were set to PMID: 30945334, 30612693 Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA MONDO:0032755 Review for gene: MAPK8IP3 was set to GREEN Added comment: 18 individuals from 17 families reported with de novo heterozygous variants in MAPK8IP3 gene (recurrence in one family due to gonadal mosaicism). Variant types were nonsense, frameshift, and missense. Expression of the missense variants in zebrafish resulted in axonal abnormalities, suggesting defects in neural development. Clinical features included: development delay, speech delay/minimal speech, intellectual disability (mild-severe), hypotonia, spasticity, ataxia. Less common features included: cortical visual impairment, scoliosis, short stature, microcephaly, dysmorphism. Brain imaging showed variable abnormalities: perisylvian polymicrogyria, cerebral atrophy, cerebellar atrophy, abnormal corpus callosum, white matter volume loss, and hypomyelination. Sources: Literature |
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