Possible mitochondrial disorder - nuclear genes
Gene: HPDL

HPDL (4-hydroxyphenylpyruvate dioxygenase like)
EnsemblGeneIds (GRCh38): ENSG00000186603
EnsemblGeneIds (GRCh37): ENSG00000186603
HPDL is in 10 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 4 Dec 2024, 11:42 a.m. | Last Modified: 4 Dec 2024, 11:42 a.m.

Panel Version: 3.113

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 4 Dec 2024, 11:42 a.m.
Last Modified: 4 Dec 2024, 11:42 a.m.
Panel version: 3.113

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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: 1.69

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

Created: 26 Jan 2021, 10:49 a.m.
Last Modified: 9 Feb 2021, 3:42 p.m.
Panel version: 1.69

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Requires review by GMS - should this be considered primary mitochondrial disease?
Sources: Literature
Created: 24 Jan 2021, 4:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM #619026; OMIM #619027

Publications

PMID: 32707086

Created: 24 Jan 2021, 4:59 p.m.

Panel version: 1.21

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026
Spastic paraplegia 83, autosomal recessive OMIM:619027

Clinvar variants

Variants in HPDL

Penetrance

None

Publications

32707086

Panels with this gene

History Filter Activity

20 Mar 2026, Gel status: 3

Removed Tag

Ida Ertmanska (Genomics England Curator)

Tag gene-checked was removed from gene: HPDL.

4 Dec 2024, Gel status: 3

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.

4 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to HPDL. Source NHS GMS was added to HPDL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 May 2022, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: HPDL.

8 Feb 2022, Gel status: 2