RXYLT1 was first reported in relation to autosomal recessive Walker Warburg Syndrome (muscular dystrophy-dystroglycanopathy, congenital with brain and eye anomalies, type A, 10) in 2012 by Vuillaumier-Barrot. et al (PMID: 23217329). The condition is associated with certain brain and eye anomalies, congenital muscular dystrophy, and severe mental impairment. There is only one disease assertion for this gene, which is for autosomal recessive Walker Warburg Syndrome (OMIM: # 605862). 9 variants (missense, frameshift, nonsense) that have been reported in 7 probands in 4 publications (PMIDs: 23217329, 23519211, 33199158, 36007194) are included in this curation. More evidence is available in the literature, but the maximum score for genetic evidence (12 pts.) has been reached. The mechanism of pathogenicity is reported to be loss of function. This gene-disease relationship is also supported by experimental evidence (expression level evidence, functional alteration, protein interaction, cell culture model, rescue; PMIDs: 29477842, 27733679). In summary, there is definitive evidence supporting the relationship between RXYLT1 and autosomal recessive Walker Warburg Syndrome. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time. This classification was approved by the ClinGen Brain Malformations GCEP on the meeting date [7/28/2023] (SOP Version 9).
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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