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Intellectual disability v10.54 ATP6AP2 Ida Ertmanska Tag Q3_26_MOI tag was added to gene: ATP6AP2.
Intellectual disability v10.54 ATP6AP2 Ida Ertmanska commented on gene: ATP6AP2: Comment on mode of inheritance: As there is an affected female reported in literature with a heterozygous ATP6AP2 variant and intellectual disability, the MOI should be changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males).
Intellectual disability v10.54 ATP6AP2 Ida Ertmanska reviewed gene: ATP6AP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11782983, 15746149, 26467484, 30985297, 38274877, 41131679; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Hedera type, OMIM:300423, syndromic X-linked intellectual disability Hedera type, MONDO:0010319; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v10.53 ATP6AP2 Ida Ertmanska Phenotypes for gene: ATP6AP2 were changed from Intellectual developmental disorder, X-linked syndromic, Hedera type, OMIM:300423 syndromic X-linked intellectual disability Hedera type, MONDO:0010319 to Intellectual developmental disorder, X-linked syndromic, Hedera type, OMIM:300423; syndromic X-linked intellectual disability Hedera type, MONDO:0010319
Intellectual disability v10.52 ATP6AP2 Ida Ertmanska Phenotypes for gene: ATP6AP2 were changed from Mental retardation, X-linked, syndromic, Hedera type, 300423; MENTAL RETARDATION X-LINKED WITH EPILEPSY; X-linked intellectual disability, Hedera type to Intellectual developmental disorder, X-linked syndromic, Hedera type, OMIM:300423 syndromic X-linked intellectual disability Hedera type, MONDO:0010319
Intellectual disability v2.468 ATP6AP2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ATP6AP2.
Intellectual disability ATP6AP2 Louise Daugherty classified ATP6AP2 as Green List (high evidence)
Intellectual disability ATP6AP2 Louise Daugherty commented on gene: ATP6AP2
Intellectual disability ATP6AP2 Zornitza Stark reviewed gene: ATP6AP2
Intellectual disability ATP6AP2 BRIDGE consortium edited their review of ATP6AP2
Intellectual disability ATP6AP2 BRIDGE consortium edited their review of ATP6AP2
Intellectual disability ATP6AP2 BRIDGE consortium reviewed ATP6AP2