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| Intellectual disability - microarray and sequencing v3.248 | ACOX2 | Arina Puzriakova Classified gene: ACOX2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.248 | ACOX2 | Arina Puzriakova Added comment: Comment on list classification: Rating Red - to date, only mild ID reported in a single patient. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.248 | ACOX2 | Arina Puzriakova Gene: acox2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.170 | ACOX2 |
Konstantinos Varvagiannis gene: ACOX2 was added gene: ACOX2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: ACOX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACOX2 were set to 27647924; 27884763; 29287774 Phenotypes for gene: ACOX2 were set to Bile acid synthesis defect, congenital, 6 - 617308 Penetrance for gene: ACOX2 were set to unknown Review for gene: ACOX2 was set to RED Added comment: Biallelic pathogenic ACOX2 variants cause Bile acid synthesis defect, congenital, 6 (MIM 617308). Overall the phenotype corresponds to an IEM/peroxisomal disorder. As per 01-07-2020 there are 3 reports, briefly reviewed : - Vilarinho et al [2016 - PMID: 27647924] provided details on an 8-year-old boy with ID. - Monte et al [2017 - PMID: 27884763] described a 16 year old male with sustained elevation of transaminases *without* accompanying neurologic symptomatology (as they comment). - Ferdinandusse et al [2018 - PMID: 29287774] reported on a girl deceased at the age of few months. Please consider inclusion in the ID panel with amber/red rating pending further reports. Sources: Literature |
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