Activity
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| Paediatric disorders - additional genes v7.7 | CHAF1A | Arina Puzriakova Classified gene: CHAF1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.7 | CHAF1A | Arina Puzriakova Added comment: Comment on list classification: Rating Amber as additional evidence, such as additional cases or functional data, is required to corroborate this new gene-disease association. There is also debate on whether OAVS is a monogenic condition which should be taken into account. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.7 | CHAF1A | Arina Puzriakova Gene: chaf1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v7.6 | CHAF1A |
Arina Puzriakova gene: CHAF1A was added gene: CHAF1A was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: CHAF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHAF1A were set to 39333427 Phenotypes for gene: CHAF1A were set to Oculo-auriculo-vertebral spectrum Review for gene: CHAF1A was set to AMBER Added comment: PMID: 39333427 (2025) - 8 individuals from 5 families with Oculo-auriculo-vertebral spectrum (OAVS) and heterozygous predicted LOF variants. No functional studies. Cases were selected through Genematcher and Decipher and were sequencing by WES or WGS. This gene-disease association is not yet represented in other resources such as PanelApp Australia, Gene2Phenotype or OMIM. Sources: Literature |
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