| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v3.12 | H6PD | Bryony Thompson Marked gene: H6PD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.12 | H6PD | Bryony Thompson Gene: h6pd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.12 | H6PD |
Bryony Thompson changed review comment from: PMID 40959972 reports 4 individuals from 4 families with biallelic H6PD missense variants (2 homozygous in consanguineous families and 2 compound heterozygous cases) presenting with early‑onset Parkinson disease (age at onset <50 years). Functional validation of the specific variants is lacking, and there is no evidence of segregation in affected individuals within the same family. Further studies required to establish the gene-disease association. Sources: Literature; to: PMID 40959972 reports 4 individuals from 4 families with biallelic H6PD missense variants (2 homozygous in consanguineous families and 2 compound heterozygous cases) presenting with early‑onset Parkinson disease (age at onset <50 years). Functional validation of the specific variants is lacking, and there is no evidence of segregation in affected individuals within the same family. Also homozygous and possible compound heterozygous variants were found in controls from the UK Biobank. Further studies required to establish the gene-disease association. Sources: Literature |
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| Early-onset Parkinson disease v3.12 | H6PD | Bryony Thompson Classified gene: H6PD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.12 | H6PD | Bryony Thompson Gene: h6pd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v3.11 | H6PD |
Bryony Thompson gene: H6PD was added gene: H6PD was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: H6PD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: H6PD were set to 40959972 Phenotypes for gene: H6PD were set to Parkinson disease MONDO:0005180 Review for gene: H6PD was set to AMBER Added comment: PMID 40959972 reports 4 individuals from 4 families with biallelic H6PD missense variants (2 homozygous in consanguineous families and 2 compound heterozygous cases) presenting with early‑onset Parkinson disease (age at onset <50 years). Functional validation of the specific variants is lacking, and there is no evidence of segregation in affected individuals within the same family. Further studies required to establish the gene-disease association. Sources: Literature |
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