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| Cerebellar and Pontocerebellar Hypoplasia v0.29 | ADGRG1 | Zornitza Stark Marked gene: ADGRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.29 | ADGRG1 | Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.29 | ADGRG1 | Zornitza Stark Classified gene: ADGRG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.29 | ADGRG1 | Zornitza Stark Gene: adgrg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.19 | ADGRG1 |
Elena Savva gene: ADGRG1 was added gene: ADGRG1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADGRG1 were set to PMID: 20929962; 16240336 Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal 606854; Polymicrogyria, bilateral perisylvian 615752 Review for gene: ADGRG1 was set to GREEN Added comment: aka GPR56 PMID: 15044805 - paper linked from PanelApp UK - no patients with relevant phenotype PMID: 20929962 - terminated fetus with agenesis of the cerebellar vermis and hypoplastic cerebellar hemispheres, was homozygous for a missense. Cerebellar dysplasia was observed in all patients (13/13), with vermis involvement in 11/13 patients. Hypoplasia with flattening of the ventral portion of the pons at the level of the middle cerebellar peduncle was detected in all patients PMID: 16240336 - 17/18 families show brainstem/cerebellar hypoplasia Sources: Expert Review |
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