Mitochondrial disorders
Gene: HPDL
The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.Created: 15 Mar 2022, 3:38 p.m. | Last Modified: 15 Mar 2022, 3:38 p.m.
Panel Version: 2.92
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, 11:20 a.m. | Last Modified: 9 Feb 2021, 3:43 p.m.
Panel Version: 2.14
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: 2.14
Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia. HPDL has a mitochondrial localization signal and consequently localizes to mitochondria suggesting a putative role in mitochondrial metabolism. Suggest adding to ID panel and possibly others.
Sources: LiteratureCreated: 4 Aug 2020, 10:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh-like phenotype; progressive neurological disease
Publications
Tag gene-checked tag was added to gene: HPDL.
Tag to_be_confirmed_NHSE tag was added to gene: HPDL.
Gene: hpdl has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: HPDL were changed from Leigh-like phenotype; progressive neurological disease to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026; Spastic paraplegia 83, autosomal recessive OMIM:619027
Tag for-review tag was added to gene: HPDL.
gene: HPDL was added gene: HPDL was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086 Phenotypes for gene: HPDL were set to Leigh-like phenotype; progressive neurological disease Review for gene: HPDL was set to GREEN