White matter disorders and cerebral calcification - narrow panel
Gene: PNPT1
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: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
White matter abnormalities can be observed in some patients with PNPT1-related mitochondrial disease caused by biallelic variants. Overall at 6 least unrelated cases reported in literature with diminished white matter and/or delayed myelination which is sufficient to justify a Green rating on this panel.
Sources: LiteratureCreated: 1 Apr 2022, 9:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 13, OMIM:614932
Publications
Tag Q1_22_rating was removed from gene: PNPT1.
Source NHS GMS was added to PNPT1. Source Expert Review Green was added to PNPT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: pnpt1 has been classified as Amber List (Moderate Evidence).
gene: PNPT1 was added gene: PNPT1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Q1_22_rating tags were added to gene: PNPT1. Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPT1 were set to 28594066; 30046113; 33199448 Phenotypes for gene: PNPT1 were set to Combined oxidative phosphorylation deficiency 13, OMIM:614932 Review for gene: PNPT1 was set to GREEN