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| Congenital fibrosis of the extraocular muscles v1.6 | PHOX2A | Ivone Leong 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, OMIM:602078 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v0.8 | PHOX2A | Morag Shanks reviewed gene: PHOX2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 11600883, 22311481, 14597037; Phenotypes: Fibrosis of extraocular muscles, congenital, 2 602078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital fibrosis of the extraocular muscles v0.7 | PHOX2A |
Ivone Leong Source Wessex and West Midlands GLH was added to PHOX2A. Source Expert Review Green was added to PHOX2A. Mode of inheritance for gene PHOX2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fibrosis of extraocular muscles, congenital, 2 602078 for gene: PHOX2A Publications for gene PHOX2A were changed from 11600883 to 11600883; 14597037; 22311481 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Congenital fibrosis of the extraocular muscles v0.5 | PHOX2A |
Anna de Burca gene: PHOX2A was added gene: PHOX2A was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHOX2A were set to 11600883 Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital, 2 Review for gene: PHOX2A was set to AMBER Added comment: Gene also known as ARIX. Sources: Literature |
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