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| Mendeliome v1.3370 | DBX1 | Bryony Thompson Marked gene: DBX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3370 | DBX1 | Bryony Thompson Gene: dbx1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3370 | DBX1 |
Bryony Thompson gene: DBX1 was added gene: DBX1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DBX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBX1 were set to 40995053 Phenotypes for gene: DBX1 were set to central hypoventilation syndrome, congenital MONDO:0800031 Review for gene: DBX1 was set to RED Added comment: Disease Context: Congenital central hypoventilation syndrome (atypical CCHS) with central hypotonia, global developmental delay, seizures, autoaggressive behavior Families: 1 (1 unrelated) Patients: 1 Phenotype: congenital central hypoventilation, central hypotonia, global developmental delay, seizures, autoaggressive behavior Mode of inheritance: Biallelic (consanguineous parents (first cousins)) Variants: c.340_341delGC (frameshift) Population Frequency: NR Segregation: NR Functional Studies: mouse Dbx1 knockout lethality indicating essential role in respiration Prior Reports: 0 Sources: Literature |
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