Cerebral Palsy
Gene: PANK2EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 18 panels
2 reviews
Luisa Weiss (University of Adelaide)
3 Individual patients from 3 different publications that had been previously diagnosed as CP but showed biallelic PANK2 mutations in WES.
Note that 2/3 showed dystonia in addition to spasticity. In one publication (PMID 34114234), the patient was reported to have birth asphyxia as a risk factor for CP. This patient showed biallelic maternally and paternally inherited splice site mutations (position +1). In PMID 25131622, the patient had a clinical presentation consistent with classical MIM#234200, but lacking the classic “eye-of-the-tiger” sign on MRI.
Note that usually, progression of motor dysfunction is a main feature of patients with biallelic PANK2 mutations. Due to the lack of individual clinical information in the large cohort studies, progression in these individuals cannot be ruled out.Created: 27 Jun 2023, 2:57 a.m. | Last Modified: 27 Jun 2023, 2:57 a.m.
Panel Version: 1.88
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HARP syndrome MIM#607236; Neurodegeneration with brain iron accumulation MIM#234200
Publications
Clare van Eyk (University of Adelaide)
One case reported with dystonic cerebral palsy. Dystonia and spasticity are reported in cases with variants in PANK2.
Sources: LiteratureCreated: 20 Sep 2021, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HARP syndrome ( OMIM 607236); Neurodegeneration with brain iron accumulation 1 (OMIM 234200)
Publications
- PMID: 33098801
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- HARP syndrome ( OMIM 607236)
- Neurodegeneration with brain iron accumulation 1 (OMIM 234200)
- 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PANK2 were set to PMID: 33098801
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pank2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pank2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pank2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: PANK2 was added gene: PANK2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PANK2 were set to PMID: 33098801 Phenotypes for gene: PANK2 were set to HARP syndrome ( OMIM 607236); Neurodegeneration with brain iron accumulation 1 (OMIM 234200) Review for gene: PANK2 was set to AMBER