Mitochondrial disorders
Gene: PANK2
The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 2 May 2024, 10:34 a.m. | Last Modified: 2 May 2024, 10:34 a.m.
Panel Version: 6.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: As reviewed by Zornitza Stark, PANK2 is a mitochondrial enzyme and there is sufficient evidence for promoting this gene to green rating at the next major update.Created: 16 Aug 2023, 11:29 a.m. | Last Modified: 16 Aug 2023, 11:29 a.m.
Panel Version: 4.77
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, 11:26 a.m. | Last Modified: 16 Aug 2023, 11:26 a.m.
Panel Version: 4.76
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HARP syndrome, OMIM:607236; Neurodegeneration with brain iron accumulation 1, OMIM:234200
A mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway (a relevant mitochondrial cofactor). >3 cases reported. We have included it in our mitochondrial panel in line with the groupings suggested by PMID: 25778941Created: 23 Mar 2020, 12:18 a.m. | Last Modified: 23 Mar 2020, 12:18 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HARP syndrome MIM#607236; Neurodegeneration with brain iron accumulation 1 MIM#234200
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_23_promote_green was removed from gene: PANK2.
Source NHS GMS was added to PANK2. Source Expert Review Green was added to PANK2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: PANK2 were set to 11479594; 12510040; 25778941; 28863176
Publications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176; 25778941
Tag Q3_23_promote_green tag was added to gene: PANK2.
Gene: pank2 has been classified as Amber List (Moderate Evidence).
Gene: pank2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236 to HARP syndrome, OMIM:607236; Neurodegeneration with brain iron accumulation 1, OMIM:234200
Publications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176; 25778941
Publications for gene: PANK2 were set to
Mode of inheritance for gene: PANK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: PANK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
PANK2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen