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Cerebral Palsy

Gene: HPDL

Green List (high evidence)

HPDL (4-hydroxyphenylpyruvate dioxygenase like)
EnsemblGeneIds (GRCh38): ENSG00000186603
EnsemblGeneIds (GRCh37): ENSG00000186603
HPDL is in 11 panels

3 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

At least 3 unrelated individuals with biallelic variants in HPDL have been reported with clinical diagnosis of cerebral palsy. Variable phenotype has been reported for NEDSWMA (MIM#619026), including early onset without obvious progression.
Created: 3 Aug 2023, 2:38 a.m. | Last Modified: 3 Aug 2023, 2:38 a.m.
Panel Version: 1.178

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026

Publications

Luisa Weiss (University of Adelaide)

Green List (high evidence)

One paper reports on 7 individuals from 2 branches of 1 large family that present with spastic cerebral palsy due to biallelic mutations in HPDL. Another report (32707086) presents 17 cases of patients with biallelic HPDL mutations and different degrees of neuromuscular and neurodegenerative disease, at least one of these individuals presented with a non-progressive movement disorder, seizures and ID.
Created: 5 Jun 2023, 4:53 a.m. | Last Modified: 5 Jun 2023, 4:53 a.m.
Panel Version: 1.86

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Overlapping phenotype, one family reported with cerebral palsy diagnosis and bi-allelic variants in this gene.
Sources: Literature
Created: 21 Jun 2021, 10:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM# 619026; Spastic paraplegia 83, autosomal recessive, MIM# 619027

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM# 619026
  • Spastic paraplegia 83, autosomal recessive, MIM# 619027
Clinvar variants
Variants in HPDL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HPDL were set to 33634263

4 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hpdl has been classified as Green List (High Evidence).

21 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Jun 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HPDL was added gene: HPDL was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 33634263 Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MIM# 619026; Spastic paraplegia 83, autosomal recessive, MIM# 619027 Review for gene: HPDL was set to AMBER