Possible mitochondrial disorder - nuclear genes
Gene: PANK2
Comment on list classification: There is sufficient evidence available for this gene to be promoted to green rating in the next major update.Created: 16 Aug 2023, 11:42 a.m. | Last Modified: 16 Aug 2023, 11:42 a.m.
Panel Version: 3.45
As reviewed by Zornitza Stark, PANK2 is a mitochondrial enzyme and there are >3 cases reported with biallelic variants in this gene. This gene has should be included in mitochondrial panels in line with the groupings suggested by PMID: 25778941.
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, 11:38 a.m. | Last Modified: 16 Aug 2023, 11:38 a.m.
Panel Version: 3.44
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HARP syndrome, OMIM:607236; Neurodegeneration with brain iron accumulation 1, OMIM:234200
Publications
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236
Publications for gene: PANK2 were set to
Gene: pank2 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: PANK2.
gene: PANK2 was added gene: PANK2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PANK2 were set to HARP syndrome, 607236; Neurodegeneration with brain iron accumulation 1, 234200