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| Congenital ophthalmoplegia v0.3 | PHOX2A | Zornitza Stark Marked gene: PHOX2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.3 | PHOX2A | Zornitza Stark Gene: phox2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.3 | PHOX2A | Zornitza Stark Phenotypes for gene: PHOX2A were changed from Fibrosis of extraocular muscles, congenital, 2 602078; Fibrosis of extraocular muscles, congenital, 2 to Fibrosis of extraocular muscles, congenital, 2, MIM# 602078 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.2 | PHOX2A | Zornitza Stark Publications for gene: PHOX2A were set to 14597037; 22311481; 11600883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.0 | PHOX2A | Shannon LeBlanc reviewed gene: PHOX2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11600883, 14597037, 16815872; Phenotypes: Fibrosis of extraocular muscles, congenital, 2, 602078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.0 | PHOX2A |
Zornitza Stark gene: PHOX2A was added gene: PHOX2A was added to Congenital fibrosis of the extraocular muscles. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PHOX2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHOX2A were set to 14597037; 22311481; 11600883 Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital, 2 602078; Fibrosis of extraocular muscles, congenital, 2 |
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