Brain Calcification
Gene: PANK2EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 18 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Additional reports by clinical labs in ClinVar supporting overall gene-disease association, though limited clinical information provided.Created: 2 May 2023, 7:01 a.m. | Last Modified: 2 May 2023, 7:01 a.m.
Panel Version: 1.75
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 1, MIM# 234200
Yetong Chen (University of Melbourne)
The 3 cases were reported within 5 years (2013-2018); however, no more new cases are reported after 2018. Hence, limited evidence supports the causal role of the MOCS1 gene in brain calcification.
PMID 23968566 reports a patient with heterozygous PANK2 variants (p.G521R and p.T528M) who exhibited basal ganglia calcifications.
PMID 29642163 reports a patient with heterozygous PANK2 variants (p.D217G and p.D447E) who developed basal ganglia calcifications.
PMID 28024710 reports a patient with 2 homozygous PANK2 variants (p.Asp403Val) who developed bilateral calcification of globus pallidus.
Sources: Expert listCreated: 20 Apr 2023, 6:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 1, MIM# 234200
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Neurodegeneration with brain iron accumulation 1, MIM# 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
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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pank2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)gene: PANK2 was added gene: PANK2 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PANK2 were set to 23968566; 29642163; 28024710 Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, MIM# 234200 Review for gene: PANK2 was set to RED