Mitochondrial disorders

Gene: PANK2

Green List (high evidence)

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

Green List (high evidence)

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

Green List (high evidence)

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: 25778941

Created: 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

• 25778941
• 11479594
• 12510040
• 28863176
• 25778941

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)