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Early-onset Parkinson disease

Gene: ATP6AP2

Green List (high evidence)
ATP6AP2 (ATPase H+ transporting accessory protein 2)
EnsemblGeneIds (GRCh38): ENSG00000182220
EnsemblGeneIds (GRCh37): ENSG00000182220
OMIM: 300556, Gene2Phenotype
ATP6AP2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 30985297 - 1 de novo male patient with postnatal neurodegeneration, seizures, mild face dysmorphism. Sequential MRI revealed decreasing gray and white matter volumes. Patient has a splice variant proven to cause alternative transcript expression. Supported by null mouse model.

PMID: 23595882 - 2 patients (1 family) with a synonymous variant proven to affect splicing. Patients have X-linked parkinsonian syndrome

Summary: 2 unrelated patients + animal models
Sources: Expert list
Created: 6 Jul 2020, 4:48 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Parkinsonism with spasticity, X-linked, MIM# 300911

Publications

Created: 6 Jul 2020, 4:48 a.m.

Panel version: 0.32

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Parkinsonism with spasticity, X-linked, MIM# 300911
OMIM
300556
Clinvar variants
Variants in ATP6AP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp6ap2 has been classified as Green List (High Evidence).

6 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: atp6ap2 has been classified as Green List (High Evidence).

6 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATP6AP2 was added gene: ATP6AP2 was added to Early-onset Parkinson disease. Sources: Expert list 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 30985297; 23595882 Phenotypes for gene: ATP6AP2 were set to Parkinsonism with spasticity, X-linked, MIM# 300911 Review for gene: ATP6AP2 was set to GREEN