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| Congenital Myasthenia v1.13 | CHD8 | Zornitza Stark Marked gene: CHD8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v1.13 | CHD8 | Zornitza Stark Gene: chd8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v1.13 | CHD8 | Zornitza Stark Classified gene: CHD8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v1.13 | CHD8 | Zornitza Stark Gene: chd8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v1.12 | CHD8 | Zornitza Stark reviewed gene: CHD8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v1.12 | CHD8 |
Sangavi Sivagnanasundram gene: CHD8 was added gene: CHD8 was added to Congenital Myasthenia. Sources: Literature Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD8 were set to 20301347; 32267004; 36835142 Phenotypes for gene: CHD8 were set to Complex neurodevelopmental disorder MONDO:0100038 Review for gene: CHD8 was set to AMBER Added comment: Report of myasthenic phenotype in at least one confirmed family as per Gene Reviews. Additional pro PMID: 32267004 14 female twins first children of healthy non consanguineous German parents Presented with a range of neonatal complications including respiratory distress, cardiorespiratory instability, jaundice, ptosis and muscle weakness. Arg578Cys - present in gnomAD but only a singleton PMID: 36835142 Other LoF variants have been reported in other pubs. Personal communication between authors state that muscle hypotonia and muscle weakness was observed in affected individuals with ID with autism and macrocephaly Sources: Literature |
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