HAAO was first reported in relation to autosomal recessive vertebral, cardiac, renal, and limb defects syndrome 1 in 2017 (Shi H, et al., 2017, PMID: 28792876). Seven unique variants (missense, nonsense, and frameshift) have been reported in 5 probands in 2 publications (PMIDs: 28792876, 33942433). In addition to this case-level data experimental evidence includes its biochemical function in the kynurenine pathway (PMID: 7514594) and a knockout mouse model (PMID: 28792876). In summary, HAAO is definitively associated with vertebral, cardiac, renal, and limb defects syndrome 1. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.
This gene-disease pair was originally evaluated by the Aminoacidopathy GCEP on 07/10/2020. It was reevaluated on 06/24/2022. As a result of this reevaluation, the classification changed from Limited to Definitive due to a new case reports (PMID: 33942433).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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