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| Ataxia - paediatric v0.293 | DAB1 | Zornitza Stark Marked gene: DAB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.293 | DAB1 | Zornitza Stark Gene: dab1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.293 | DAB1 | Zornitza Stark Classified gene: DAB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.293 | DAB1 | Zornitza Stark Gene: dab1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.292 | DAB1 | Zornitza Stark reviewed gene: DAB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.292 | DAB1 |
Daniel Flanagan gene: DAB1 was added gene: DAB1 was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: DAB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAB1 were set to PMID: 33928188 Phenotypes for gene: DAB1 were set to epilepsy; developmental delay; cerebellar ataxia; structural brain abnormalities; oral motor difficulty Penetrance for gene: DAB1 were set to unknown Review for gene: DAB1 was set to AMBER Added comment: WES trio analysis identified compound heterozygous DAB1 canonical splice variants in a child with epilepsy (onset 6 years), developmental delay, cerebellar ataxia, oral motor difficulty, and structural brain abnormalities. RT-PCR confirms that the first variant (c.307-2A>T) causes a in-frame deletion of 3 amino acids. The second variant (c.67+1G>T) is reported to causes an in-frame deletion of exon 4 (first coding exon) and loss of the ATG initiation site. Sources: Literature |
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