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| Cerebral Palsy v2.0 | HYCC1 | Gene symbol changed from FAM126A to HYCC1 during gene set migration (ENSG00000122591 -> ENSG00000122591) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | FAM126A |
Luisa Weiss gene: FAM126A was added gene: FAM126A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM126A were set to 34788679 Phenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating MIM#610532 Review for gene: FAM126A was set to AMBER Added comment: One large CP cohort study with one patient with a homozygous HYCC1/FAM126A mutation and CP Sources: Literature |
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