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| Paediatric pseudo-obstruction syndrome v0.216 | PHOX2B | Achchuthan Shanmugasundram reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.213 | PHOX2B | Arina Puzriakova Tag STR tag was added to gene: PHOX2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.82 | PHOX2B | Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance of both monoalleic and biallelic has been selected as PubMed: 30672101 reports a family where monoallelic family members are unaffected, but the compound heterozygous patient is affected. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.82 | PHOX2B | Sarah Leigh Mode of inheritance for gene: PHOX2B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.81 | PHOX2B | Sarah Leigh Classified gene: PHOX2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.81 | PHOX2B | Sarah Leigh Gene: phox2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.80 | PHOX2B | Sarah Leigh reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.80 | PHOX2B | Sarah Leigh Publications for gene: PHOX2B were set to 30672101; 29543228; 12438263 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.79 | PHOX2B | Sarah Leigh Publications for gene: PHOX2B were set to 30672101 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.78 | PHOX2B | Sarah Leigh Phenotypes for gene: PHOX2B were changed from Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880; central hypoventilation syndrome, congenital, MONDO:0800031 to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880; central hypoventilation syndrome, congenital, MONDO:0800031; Neuroblastoma with Hirschsprung disease, OMIM:613013; neuroblastoma, susceptibility to, 2, MONDO:0700041 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.77 | PHOX2B | Sarah Leigh Mode of inheritance for gene: PHOX2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.76 | PHOX2B | Sarah Leigh Publications for gene: PHOX2B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.75 | PHOX2B | Sarah Leigh Phenotypes for gene: PHOX2B were changed from to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880; central hypoventilation syndrome, congenital, MONDO:0800031 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.74 | PHOX2B | Sarah Leigh Mode of inheritance for gene: PHOX2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | PHOX2B | Eleanor Williams reviewed gene: PHOX2B: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: monogenic syndrome with a variable predisposition to HSCR; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | PHOX2B |
Eleanor Williams gene: PHOX2B was added gene: PHOX2B was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: PHOX2B was set to |
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