Dystonia - complex
Gene: C19orf12EnsemblGeneIds (GRCh38): ENSG00000131943
EnsemblGeneIds (GRCh37): ENSG00000131943
OMIM: 614297, Gene2Phenotype
C19orf12 is in 14 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
NBIA4 is characterised by multiple neurological features including dystonia, spastic paraplegia, parkinsonism, psychiatric and behavioral symptoms.
Established gene-disease association with reported individuals having dystonic features and either a homozygous or compound heterozygous variant in C9orf12.
A common founder variant (p.Gly69ArgfsX10) was identified in Polish population (PMID: 21981780).
Classified as Definitive by ClinGen Syndromic Disorders GCEP on 28/02/2023 - https://search.clinicalgenome.org/CCID:004301Created: 5 Dec 2024, 5:54 a.m. | Last Modified: 5 Dec 2024, 5:54 a.m.
Panel Version: 0.242
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neurodegeneration with brain iron accumulation 4 MONDO:0013674
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- 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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c19orf12 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: C19orf12 were changed from mitochondrial membrane protein-associated neurodegeneration; neurodegeneration with brain iron accumulation-4; Dystonia to neurodegeneration with brain iron accumulation 4 MONDO:0013674
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: C19orf12 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: C19orf12 was added gene: C19orf12 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: C19orf12 were set to mitochondrial membrane protein-associated neurodegeneration; neurodegeneration with brain iron accumulation-4; Dystonia