Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Possible mitochondrial disorder - nuclear genes

Gene: HPDL

Amber List (moderate evidence)

HPDL (4-hydroxyphenylpyruvate dioxygenase like)
EnsemblGeneIds (GRCh38): ENSG00000186603
EnsemblGeneIds (GRCh37): ENSG00000186603
HPDL is in 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026
  • Spastic paraplegia 83, autosomal recessive OMIM:619027
Tags
for-review
Clinvar variants
Variants in HPDL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: hpdl has been classified as Amber List (Moderate Evidence).

26 Jan 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

26 Jan 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: HPDL were set to PMID: 32707086

26 Jan 2021, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: HPDL.

24 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Carl Fratter (Oxford University Hospitals NHS Trust)

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