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| Mendeliome v1.2948 | HYPK |
Krithika Murali gene: HYPK was added gene: HYPK was added to Mendeliome. Sources: Literature Mode of inheritance for gene: HYPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HYPK were set to Clinical Genetics Early View Phenotypes for gene: HYPK were set to Neurodevelopmental disorder, MONDO:0700092, HYPK-related Review for gene: HYPK was set to RED Added comment: Single case report - Patel, R. et al 2025 Clinical Genetics Early View Male proband with developmental delay, autism and facial dysmorphism with a de novo missense HYPK variant (p. R70I). Variant-specific biochemical analyses demonstrates enhanced inhibitory activity of HYPK on NatA-mediated N-terminal protein acetylation. GestaltMatcher analysis indicates that the proband's facial phenotype closely resembles Ogden syndrome (NAA10) and some resemblance to NAA15-NDS - both associated genes are also involved in the N-terminal acetylation pathway. Sources: Literature |
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| Mendeliome v0.10584 | NAA10 | Zornitza Stark Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic 1 309800 to Microphthalmia, syndromic 1, MIM# 309800; Ogden syndrome MIM#300855 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10583 | NAA10 | Zornitza Stark Publications for gene: NAA10 were set to 30842225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10556 | NAA10 | Ain Roesley Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10556 | NAA10 |
Ain Roesley edited their review of gene: NAA10: Added comment: For Ogden association: lethal X-linked. 9 males from 3 families with recurrent Ser37Pro All presenting the distinctive and recognizable phenotype, which includes mostly postnatal growth retardation, global severe developmental delay, characteristic craniofacial features, and structural cardiac anomalies and/or arrhythmias For non-lethal syndromic ID: reported in 10 males and (mostly de novo) in 37 females variants causing this are missense located along the protein and 1 truncating For syndromic microopththamia: variants are in the UTR; Changed mode of inheritance: Other |
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| Mendeliome v0.10552 | NAA10 | Ain Roesley reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 34075687, 21700266; Phenotypes: Ogden syndrome MIM#300855; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.5857 | NAA10 | Zornitza Stark Tag 5'UTR tag was added to gene: NAA10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2398 | NAA10 | Zornitza Stark Marked gene: NAA10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2398 | NAA10 | Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2398 | NAA10 | Zornitza Stark Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1 309800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2397 | NAA10 | Zornitza Stark Publications for gene: NAA10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2396 | NAA10 | Zornitza Stark Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.2361 | NAA10 | Naomi Baker reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30842225.; Phenotypes: syndromic X-linked microphthalmia; 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | NAA10 |
Zornitza Stark gene: NAA10 was added gene: NAA10 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NAA10 was set to Unknown |
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