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| Mendeliome v1.3953 | Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3953 | PHOX2B_CCHS_GCN |
Bryony Thompson STR: PHOX2B_CCHS_GCN was added STR: PHOX2B_CCHS_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN. Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833 Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 |
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| Mendeliome v0.13464 | PHOX2B | Zornitza Stark Marked gene: PHOX2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13464 | PHOX2B | Zornitza Stark Gene: phox2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13464 | PHOX2B | Zornitza Stark Phenotypes for gene: PHOX2B were changed from to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease - MIM#209880; Neuroblastoma with Hirschsprung disease - MIM#613013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13463 | PHOX2B | Zornitza Stark Publications for gene: PHOX2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13462 | PHOX2B | Zornitza Stark Mode of inheritance for gene: PHOX2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13429 | PHOX2B | Krithika Murali reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444792; Phenotypes: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease - MIM#209880, Neuroblastoma with Hirschsprung disease - MIM#613013; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | PHOX2B |
Zornitza Stark gene: PHOX2B was added gene: PHOX2B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PHOX2B was set to Unknown |
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