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Likely inborn error of metabolism v1.47 ATP6V0A2 Ivone Leong Source NHS GMS was added to ATP6V0A2.
Source London North GLH was added to ATP6V0A2.
Likely inborn error of metabolism v0.4 ATP6V0A2 Ellen McDonagh Added phenotypes V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Cutis laxa, autosomal recessive, type IIA 21920; Wrinkly skin syndrome 278250 for gene: ATP6V0A2
Publications for gene ATP6V0A2 were changed from 20301755 to 27604308
Likely inborn error of metabolism v0.4 ATP6V0A2 Ellen McDonagh gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V0A2 were set to 20301755
Phenotypes for gene: ATP6V0A2 were set to V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Cutis laxa, autosomal recessive, type IIA 21920; Wrinkly skin syndrome 278250