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| Congenital ophthalmoplegia v1.8 | HNRNPA2B1 | Zornitza Stark Phenotypes for gene: HNRNPA2B1 were changed from oculopharyngeal muscular dystrophy, MONDO:0008116 to oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.5 | HNRNPA2B1 | Zornitza Stark Marked gene: HNRNPA2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.5 | HNRNPA2B1 | Zornitza Stark Gene: hnrnpa2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.5 | HNRNPA2B1 | Zornitza Stark Classified gene: HNRNPA2B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.5 | HNRNPA2B1 | Zornitza Stark Gene: hnrnpa2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v1.4 | HNRNPA2B1 |
Naomi Baker gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPA2B1 were set to PMID:35484142 Phenotypes for gene: HNRNPA2B1 were set to oculopharyngeal muscular dystrophy, MONDO:0008116 Review for gene: HNRNPA2B1 was set to GREEN Added comment: PMID:35484142 reports 11 individuals from 10 families with heterozygous frameshift variants that result in the identical protein extension. Phenotype presents as an early-onset oculopharyngeal muscular dystrophy-like phenotype, and includes ptosis, ophthalmoplegia, symmetric proximal and distal weakness, moderate progression, dysphagia, respiratory insufficiency. Sources: Literature |
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