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| Structural eye disease v0.76 | HDAC6 | Nicola Ragge reviewed gene: HDAC6: Rating: RED; Mode of pathogenicity: other - please provide details in the comments; Publications: 20181727; Phenotypes: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | HDAC6 | Ivone Leong reviewed gene: HDAC6: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: 20181727; Phenotypes: CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.29 | HDAC6 | Ivone Leong Phenotypes for gene: HDAC6 were changed from Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863; CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863 to Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | HDAC6 |
Ivone Leong Source NHS GMS was added to HDAC6. Mode of inheritance for gene HDAC6 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mode of pathogenicity for gene HDAC6 was changed from to other - please provide details in the comments Added phenotypes CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, 300863 for gene: HDAC6 Publications for gene HDAC6 were changed from to 20181727 |
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| Structural eye disease v0.2 | HDAC6 |
Ellen McDonagh gene: HDAC6 was added gene: HDAC6 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: HDAC6 was set to Phenotypes for gene: HDAC6 were set to Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, andmicrophthalmia, 300863 |
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