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Intellectual disability syndromic and non-syndromic v0.6755 HEPACAM Zornitza Stark Marked gene: HEPACAM as ready
Intellectual disability syndromic and non-syndromic v0.6755 HEPACAM Zornitza Stark Gene: hepacam has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.6755 HEPACAM Zornitza Stark Phenotypes for gene: HEPACAM were changed from to Megalencephalic leukoencephalopathy with subcortical cysts 2A MONDO:0013490; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability MONDO:0013491
Intellectual disability syndromic and non-syndromic v0.6754 HEPACAM Zornitza Stark Publications for gene: HEPACAM were set to
Intellectual disability syndromic and non-syndromic v0.6753 HEPACAM Zornitza Stark Mode of inheritance for gene: HEPACAM was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.6222 HEPACAM Sangavi Sivagnanasundram reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 21419380, 24202401, 27389245, 31372844, 21419380, 24202401, 27322623; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A MONDO:0013490, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability MONDO:0013491; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 HEPACAM Zornitza Stark gene: HEPACAM was added
gene: HEPACAM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: HEPACAM was set to Unknown