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| Congenital Heart Defect v0.200 | NAA15 | Zornitza Stark Marked gene: NAA15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.200 | NAA15 | Zornitza Stark Gene: naa15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.200 | NAA15 | Zornitza Stark Classified gene: NAA15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.200 | NAA15 | Zornitza Stark Gene: naa15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.199 | NAA15 | Krithika Murali Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.199 | NAA15 |
Krithika Murali edited their review of gene: NAA15: Added comment: Monoallelic variants associated with syndromic ID. At least 47 individuals from 42 unrelated families in the published literature. Phenotypic features reported include: - ID (all) - Mild dysmorphic features (20/30) - ASD/ADHD/behavioural issues (30/33) - Skeletal and connective tissue anomalies (10/22) - Congenital heart defects (4/19) - Hypertrophic cardiomyopathy (paediatric onset) - 2 unrelated individuals (PMID: 33103328) In addition: PMID 33557580 - WES of 4511 patients with CHD identified 4 subjects with a rare LoF variant (allele frequency <0.00005) in the NAA15 gene, resulting in NAA15 haploinsufficiency. Parental analyses indicated that 3 of these LoF variants (p.Ser761*, p.Lys336Lys fs*6, and p.Arg470*) arose de novo in the probands. The inheritance of the p.Ala718fs variant is uncertain, as parental samples were unavailable. The authors also reference their previous studies identifying 2 other patients with CHD and LoF NAA15 heterozygous variants.; Changed phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787, congenital heart defect |
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| Congenital Heart Defect v0.199 | NAA15 |
Krithika Murali gene: NAA15 was added gene: NAA15 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NAA15 were set to 33103328; 29656860; 31127942; 28191889; 33557580; 28990276 Phenotypes for gene: NAA15 were set to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787 Review for gene: NAA15 was set to GREEN Added comment: Monoallelic variants associated with syndromic ID. At least 47 individuals from 42 unrelated families in the published literature. Phenotypic features reported include: - ID (all) - Mild dysmorphic features (20/30) - ASD/ADHD/behavioural issues (30/33) - Skeletal and connective tissue anomalies (10/22) - Congenital heart defects (4/19) - Hypertrophic cardiomyopathy (paediatric onset) - 2 unrelated individuals (PMID: 33103328) In addition: PMID 33557580 - WES of 4511 patients with CHD identified 4 subjects with a rare LoF variant (allele frequency <0.00005) in the NAA15 gene, resulting in NAA15 haploinsufficiency. Parental analyses indicated that 3 of these LoF variants (p.Ser761*, p.Lys336Lys fs*6, and p.Arg470*) arose de novo in the probands. The inheritance of the p.Ala718fs variant is uncertain, as parental samples were unavailable. The authors also reference their previous studies identifying 2 other patients with CHD and LoF NAA15 heterozygous variants. Sources: Literature |
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