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Incidentalome

Gene: PANK2

Green List (high evidence)
PANK2 (pantothenate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 18 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PANK2 is known to be causative of 30-35% of all NBIA cases.
NBIA is a group of neurodegenerative diseases with dementia and extrapyramidal features.

PMID: 24600523
Individual with extrapyramidal signs and dementia. Imaging showed eye of the tiger sign and was diagnosed with pantothenate kinase-associated neurodegeneration PKAN.

PMID: 19480328
Reported in a Turkish individual with clinical and neurological diagnosis of PKAN and molecular genetic diagnosis of a frameshift mutation in PANK2.
Created: 15 Aug 2023, 5:42 a.m. | Last Modified: 15 Aug 2023, 5:42 a.m.
Panel Version: 0.179

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration with brain iron accumulation 1 (MIM#234200)

Publications

Created: 15 Aug 2023, 5:42 a.m.
Last Modified: 15 Aug 2023, 5:42 a.m.
Panel version: Imported from Early-onset Dementia panel version 0.179

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PANK2 was added gene: PANK2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PANK2 was set to Unknown