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Dystonia, chorea or related movement disorder, adult onset v6.4 ATP6AP2 Ida Ertmanska Mode of inheritance for gene: ATP6AP2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dystonia, chorea or related movement disorder, adult onset v6.3 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)
Dystonia, chorea or related movement disorder, adult onset v6.2 ATP6AP2 Ida Ertmanska Phenotypes for gene: ATP6AP2 were changed from ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423 to ?Parkinsonism with spasticity, X-linked 300911; Intellectual developmental disorder, X-linked syndromic, Hedera type, OMIM:300423; syndromic X-linked intellectual disability Hedera type, MONDO:0010319
Dystonia, chorea or related movement disorder, adult onset v0.88 ATP6AP2 Louise Daugherty edited their review of gene: ATP6AP2: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED
Dystonia, chorea or related movement disorder, adult onset v0.50 ATP6AP2 Louise Daugherty reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v0.49 ATP6AP2 Emily Jones reviewed gene: ATP6AP2: Rating: RED; Mode of pathogenicity: ; Publications: 23595882; Phenotypes: Mental retardation, X-linked, syndromic, Hedera type 300423, ?Parkinsonism with spasticity, X-linked 300911; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dystonia, chorea or related movement disorder, adult onset v0.48 ATP6AP2 Louise Daugherty Added phenotypes ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423 for gene: ATP6AP2
Dystonia, chorea or related movement disorder, adult onset v0.47 ATP6AP2 Louise Daugherty Source NHS GMS was added to ATP6AP2.
Dystonia, chorea or related movement disorder, adult onset v0.46 ATP6AP2 Louise Daugherty Source South West GLH was added to ATP6AP2.
Dystonia, chorea or related movement disorder, adult onset v0.2 ATP6AP2 Ellen McDonagh gene: ATP6AP2 was added
gene: ATP6AP2 was added to Adult onset movement disorder. Sources: Expert Review Red
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 23595882
Phenotypes for gene: ATP6AP2 were set to Mental retardation, X-linked, syndromic, Hedera type 300423; ?Parkinsonism with spasticity, X-linked 300911