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BabyScreen+ newborn screening

Gene: PANK2

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

1 review

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: strong. Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable

Severity: severe

Age of onset: Onset is in the first or second decade and death usually occurs before the age of 30 years. Classic form presents <6 years (mean 3.4 years); atypical form mean age of onset 13 years.

Non-molecular confirmatory testing: no

Treatment: symptomatic only therefore exclude
Created: 2 Nov 2022, 12:13 a.m. | Last Modified: 2 Nov 2022, 12:13 a.m.
Panel Version: 0.719

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200

Created: 2 Nov 2022, 12:13 a.m.
Last Modified: 2 Nov 2022, 12:13 a.m.
Panel version: 0.719

History Filter Activity

2 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pank2 has been classified as Red List (Low Evidence).

2 Nov 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1 to Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200

2 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pank2 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PANK2 was added gene: PANK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1