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| Central congenital hypoventilation v1.6 | PHOX2B | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #209880) and the OMIM record was last accessed on 17 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central congenital hypoventilation v1.6 | PHOX2B | Achchuthan Shanmugasundram Phenotypes for gene: PHOX2B were changed from to Congenital central hypoventilation syndrome, OMIM:209880; central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MONDO:0800026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central congenital hypoventilation v0.1 | PHOX2B | Achchuthan Shanmugasundram reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central congenital hypoventilation v0.1 | PHOX2B |
Achchuthan Shanmugasundram gene: PHOX2B was added gene: PHOX2B was added to Central congenital hypoventilation. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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