Early-onset Parkinson disease
Gene: C19orf12EnsemblGeneIds (GRCh38): ENSG00000131943
EnsemblGeneIds (GRCh37): ENSG00000131943
OMIM: 614297, Gene2Phenotype
C19orf12 is in 14 panels
1 review
Kaitlyn Dianna Weldon (University of Melbourne)
21981780:
- familial cases: 2 families with mild Parkinsonism, (2 cases with phenotype in family 28, 1 case in 21)
- Simplex cases: case 6 and case 33 presenting with mild Parkinsonism, case 41 and 44 presenting with severe Parkinsonism
23278385:
- family 1: 29 and 25 yo male presenting with phenotype
- family 2: 32 yo male presenting with phenotypeCreated: 25 Aug 2023, 12:07 a.m. | Last Modified: 25 Aug 2023, 12:07 a.m.
Panel Version: 0.243
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodegeneration with brain iron accumulation 4 MONDO:0013674
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- neurodegeneration with brain iron accumulation 4 MONDO:0013674
- OMIM
- 614297
- Clinvar variants
- Variants in C19orf12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Early-onset Dementia
- Hereditary Spastic Paraplegia - adult onset
- Neurodegeneration with brain iron accumulation
- Prepair 1000+
- Hereditary Neuropathy - complex
- Dystonia - complex
- Optic Atrophy
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: c19orf12 has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: C19orf12 were changed from to neurodegeneration with brain iron accumulation 4 MONDO:0013674
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: C19orf12 were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: C19orf12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: C19orf12 was added gene: C19orf12 was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: C19orf12 was set to Unknown