Possible mitochondrial disorder - nuclear genesGene: HPDL
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 16 variants reported in 17 cases from 11 unrelated families, supportive functional studies were reported, including localization of HPDL protein to the mitochrondria and muscle fibre abnormalies in some cases tested (PMID 32707086).
Created: 26 Jan 2021, 11:19 a.m. | Last Modified: 9 Feb 2021, 3:42 p.m.
Panel Version: 1.33
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 26 Jan 2021, 10:49 a.m. | Last Modified: 26 Jan 2021, 10:49 a.m.
Panel Version: 1.24
Requires review by GMS - should this be considered primary mitochondrial disease?
Created: 24 Jan 2021, 4:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
OMIM #619026; OMIM #619027
Gene: hpdl has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: HPDL were changed from OMIM #619026; OMIM #619027 to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026; Spastic paraplegia 83, autosomal recessive OMIM:619027
Publications for gene: HPDL were set to PMID: 32707086
Tag for-review tag was added to gene: HPDL.
gene: HPDL was added gene: HPDL was added to Possible mitochondrial disorder - nuclear genes. Sources: Literature Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to PMID: 32707086 Phenotypes for gene: HPDL were set to OMIM #619026; OMIM #619027 Review for gene: HPDL was set to AMBER