Neurodegeneration with brain iron accumulation
Gene: PANK2
PANK2 (pantothenate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 18 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Established gene-disease association. The condition is also known as pantothenate kinase-associated neurodegeneration (PKAN). Whilst all affected individuals with mutations in PANK2 present with some form of extrapyramidal signs, not all of the reported individuals present with brain iron accumulation on MRI or the "eye of the tiger sign".
>3 unrelated individuals with variants in PANK2 and relevant MRI findings.Created: 4 Dec 2024, 2:59 a.m. | Last Modified: 4 Dec 2024, 2:59 a.m.
Panel Version: 0.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 1 MIM#234200; pantothenate kinase-associated neurodegeneration MONDO:0009319
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- GeneReviews
- Expert Review Green
- Phenotypes
-
- Pantothenate kinase-associated neurodegeneration (PKAN)
- OMIM
- 606157
- Clinvar variants
- Variants in PANK2
- Penetrance
- None
- 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
10 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PANK2 was added gene: PANK2 was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PANK2 were set to Pantothenate kinase-associated neurodegeneration (PKAN)