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| Embryonal tumour of possible germline origin v0.7 | PHOX2B | Achchuthan Shanmugasundram commented on gene: PHOX2B: PHOX2B has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.2 | PHOX2B | Achchuthan Shanmugasundram reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: neuroblastoma, susceptibility to, 2, MONDO:0700041, Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880, central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MONDO:0800026, {Neuroblastoma, susceptibility to, 2}, OMIM:613013; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.1 | PHOX2B |
Achchuthan Shanmugasundram gene: PHOX2B was added gene: PHOX2B was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PHOX2B were set to central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MONDO:0800026; neuroblastoma, susceptibility to, 2, MONDO:0700041; {Neuroblastoma, susceptibility to, 2}, OMIM:613013; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880 |
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