Dystonia - complex
Gene: PANK2EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 18 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association with affected individuals presenting with generalised or lower limb dystonia along with other psychiatric/behavioural problems.Created: 10 Dec 2024, 2:52 a.m. | Last Modified: 10 Dec 2024, 2:53 a.m.
Panel Version: 0.254
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
pantothenate kinase-associated neurodegeneration MONDO:0009319
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- pantothenate kinase-associated neurodegeneration MONDO:0009319
- Dystonia
- OMIM
- 606157
- Clinvar variants
- Variants in PANK2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Brain Calcification
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Incidentalome
- Early-onset Dementia
- Neurodegeneration with brain iron accumulation
- Additional findings_Paediatric
- Dystonia - complex
- Syndromic Retinopathy
- Prepair 500+
- Cerebral Palsy
- Vitamin metabolism disorders
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pank2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PANK2 were changed from pantothenate kinase-associated neurodegeneration; Dystonia to pantothenate kinase-associated neurodegeneration MONDO:0009319; Dystonia
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PANK2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PANK2 was added gene: PANK2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PANK2 were set to pantothenate kinase-associated neurodegeneration; Dystonia