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Date	Panel	Item	Activity
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10 Jul 2026	Likely inborn error of metabolism v9.21	ATP6AP2	Ida Ertmanska Mode of inheritance for gene: ATP6AP2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
10 Jul 2026	Likely inborn error of metabolism v9.20	ATP6AP2	Ida Ertmanska edited their review of gene: ATP6AP2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
09 Jul 2026	Likely inborn error of metabolism v9.20	ATP6AP2	Eleanor Williams Entity copied from Congenital disorders of glycosylation v8.6
09 Jul 2026	Likely inborn error of metabolism v9.20	ATP6AP2	Eleanor Williams gene: ATP6AP2 was added gene: ATP6AP2 was added to Likely inborn error of metabolism. Sources: Literature,Expert Review Amber Q3_26_promote_green tags were added to gene: ATP6AP2. Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP2 were set to 29127204; 38075676; 41131679 Phenotypes for gene: ATP6AP2 were set to Congenital disorder of glycosylation, type IIr, OMIM:301045; congenital disorder of glycosylation, type IIr, MONDO:0026765; congenital disorder of glycosylation, type IIr, X-linked recessive Mode of pathogenicity for gene: ATP6AP2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments