CAMLG was first reported in relation to autosomal recessive Congenital Disorder of Glycosylation, type IIz (MONDO:0859357) in 2022 (Wilson M et al., 2022; PMID: 35262690). CDG2z is a disorder characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, and brain imaging abnormalities. This gene forms an ER membrane receptor that enables cytoplasmically facing tail-anchored (TA) proteins to be integrated within the lipid bilayer.
35 variants (e.g., synonymous, missense, in-frame indel, nonsense) have been reported in humans by ClinVar. Evidence supporting this gene-disease relationship includes case-level data and experimental data. One variant has been reported in 1 probands in 1 publication (Wilson M et al., 2022; PMID: 35262690), are included in this curation. Limited evidence was available in the literature. This gene-disease relationship is also supported by non-human model organisms and a rescue in non-human model organisms (Tran D et al., 2014, PMID:24392163; Vilardi F et al., 2003, PMID:12919676). In summary, there is limited evidence to support the relationship between CAMLG and Congenital Disorder of Glycosylation, type IIz. This has been demonstrated in both the research and clinical diagnostic settings. This classification was approved by the ClinGen Congenital Disorder of Glycosylation GCEP on the meeting date September 18, 2024 (SOP Version 10).
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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