Possible mitochondrial disorder - nuclear genes
Gene: PANK2EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 12 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 4 Dec 2024, 11:42 a.m. | Last Modified: 4 Dec 2024, 11:42 a.m.
Panel Version: 3.113
Comment on list classification: There is sufficient evidence available for this gene to be promoted to green rating in the next major update.Created: 16 Aug 2023, 11:42 a.m. | Last Modified: 16 Aug 2023, 11:42 a.m.
Panel Version: 3.45
As reviewed by Zornitza Stark, PANK2 is a mitochondrial enzyme and there are >3 cases reported with biallelic variants in this gene. This gene has should be included in mitochondrial panels in line with the groupings suggested by PMID: 25778941.
This gene has been associated with relevant phenotypes in both OMIM (MIMs #607236 & #234200) and in Gene2Phenotype (HARP syndrome with 'definitive' rating in the eye panel).Created: 16 Aug 2023, 11:38 a.m. | Last Modified: 16 Aug 2023, 11:38 a.m.
Panel Version: 3.44
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HARP syndrome, OMIM:607236; Neurodegeneration with brain iron accumulation 1, OMIM:234200
Publications
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- HARP syndrome, 607236
- Neurodegeneration with brain iron accumulation 1, 234200
- OMIM
- 606157
- Clinvar variants
- Variants in PANK2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Structural basal ganglia disorders
- Retinal disorders
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: PANK2.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to PANK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: PANK2 were set to
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: pank2 has been classified as Amber List (Moderate Evidence).
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: PANK2.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PANK2 was added gene: PANK2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PANK2 were set to HARP syndrome, 607236; Neurodegeneration with brain iron accumulation 1, 234200