Mitochondrial disease
Gene: PANK2EnsemblGeneIds (GRCh38): ENSG00000125779
EnsemblGeneIds (GRCh37): ENSG00000125779
OMIM: 606157, Gene2Phenotype
PANK2 is in 18 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway (a relevant mitochondrial cofactor). >3 cases reported.
Sources: Literature, NHS GMSCreated: 21 Mar 2020, 8:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HARP syndrome MIM#607236; Neurodegeneration with brain iron accumulation 1 MIM#234200
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- HARP syndrome MIM#607236
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: pank2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pank2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PANK2 was added gene: PANK2 was added to Mitochondrial disease. Sources: Literature,NHS GMS Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176 Phenotypes for gene: PANK2 were set to HARP syndrome MIM#607236; Neurodegeneration with brain iron accumulation 1 MIM#234200 Review for gene: PANK2 was set to GREEN