Early-onset Parkinson disease

Gene: ATP7B

I don't know

Publications report heterozygous mutations in ATP7B can cause late onset parkinson disease.

PMID: 31426520
Heterozygous individual with PD symptoms
Cys1079Gly identified in this patient
Functional study on the N-domain of ATP7B predicts a deterioration of the domain function.
Hypothesised that those carrying a heterozygous mutation in a WD associated gene have an increased risk of developing PD

PMID: 33972609
Reports the finding of 4 rare heterozygous variants in individuals with PD phenotype.

PMID: 36553628
Reports het p. His1069Gln.

PMID: 16737839
Sisters with late onset PD
Found a 5bp deletion in the 5’UTR of one ATP7B alleles. Region inclusive of the cis-regulatory element know for the normal function of ATP7B.

Created: 30 Jun 2023, 7:26 a.m. | Last Modified: 30 Jun 2023, 7:26 a.m.

Panel Version: 0.240

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Wilson disease (MONDO:0010200)

Publications

• 31426520
• 33972609
• 36553628
• 16737839

Green List (high evidence)

Parkinsonism is a prominent neurological feature of Wilson disease.
Sources: Expert list

Created: 24 Mar 2020, 11:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Wilson disease MIM#277900

Publications

• 17435591