Mitochondrial disorders
Gene: HPDLEnsemblGeneIds (GRCh38): ENSG00000186603
EnsemblGeneIds (GRCh37): ENSG00000186603
HPDL is in 10 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance updated 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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026
- Spastic paraplegia 83, autosomal recessive OMIM:619027
- Tags
- Clinvar variants
- Variants in HPDL
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Hereditary neuropathy or pain disorder
- White matter disorders and cerebral calcification - narrow panel
- Severe microcephaly
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- DDG2P
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag for-review was removed from gene: HPDL. Tag to_be_confirmed_NHSE was removed from gene: HPDL.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to HPDL. Source Expert Review Green was added to HPDL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: HPDL.
Added Tag
Sarah Leigh (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: HPDL.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: hpdl has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Added Tag
Sarah Leigh (Genomics England Curator)Tag for-review tag was added to gene: HPDL.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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