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| Structural eye disease v0.94 | NAA10 | Ivone Leong Classified gene: NAA10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.94 | NAA10 | Ivone Leong Added comment: Comment on list classification: Promoted to Green based on expert review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.94 | NAA10 | Ivone Leong Gene: naa10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | NAA10 | Nicola Ragge reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: other - please provide details in the comments; Publications: 24431331, 30842225; Phenotypes: Microphthalmia, syndromic 1, 309800; 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 v0.48 | NAA10 | Ivone Leong edited their review of gene: NAA10: Changed phenotypes: Microphthalmia, syndromic 1, 309800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | NAA10 | Ivone Leong reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24431331, 30842225; Phenotypes: Exudative vitreoretinopathy 2, X-linked, 305390, Norrie disease, 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.32 | NAA10 | Ivone Leong Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic 1, 309800; Microphthalmia, syndromic 1, 309800 to Microphthalmia, syndromic 1, 309800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | NAA10 |
Ivone Leong Source NHS GMS was added to NAA10. Mode of inheritance for gene NAA10 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females 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 NAA10 was changed from to other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 1, 309800 for gene: NAA10 Publications for gene NAA10 were changed from 24431331, 20301694 to 30842225; 24431331 |
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| Structural eye disease v0.2 | NAA10 |
Ellen McDonagh gene: NAA10 was added gene: NAA10 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NAA10 were set to 24431331, 20301694 Phenotypes for gene: NAA10 were set to Microphthalmia, syndromic 1, 309800 |
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