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| Cerebral Palsy v1.390 | MAPK8IP3 |
Chirag Patel changed review comment from: 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.; to: 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. |
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| Cerebral Palsy v1.390 | MAPK8IP3 | Chirag Patel Classified gene: MAPK8IP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.390 | MAPK8IP3 | Chirag Patel Gene: mapk8ip3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.389 | MAPK8IP3 | Chirag Patel reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30945334, 30612693; Phenotypes: Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA MONDO:0032755; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.322 | MAPK8IP3 | Zornitza Stark Marked gene: MAPK8IP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.322 | MAPK8IP3 | Zornitza Stark Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.322 | MAPK8IP3 | Zornitza Stark Classified gene: MAPK8IP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.322 | MAPK8IP3 | Zornitza Stark Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.315 | MAPK8IP3 |
Clare van Eyk gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Cerebral Palsy. 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: 38168508 Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities, MIM#618443 Review for gene: MAPK8IP3 was set to AMBER Added comment: Single case with pathogenic MAPK8IP3 variant, inheritance not confirmed, diagnosed with spastic diplegic cerebral palsy with unclear cause (PMID: 38168508). Additional cases series reported two recurrent de novo missense variants in MAPK8IP3 in 5 individuals from four families with a core set of neurodevelopmental symptoms, including spastic diplegia, intellectual disability, and corpus callosum hypoplasia (PMID: 30945334). Sources: Literature |
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