HPDL

4-hydroxyphenylpyruvate dioxygenase like
Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green HPDL in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 Tags gene-checked
Green HPDL in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 Tags gene-checked
Green HPDL in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 Spastic paraplegia 83, autosomal recessive, OMIM:619027 Spastic paraplegia 83, autosomal recessive, MONDO:0033614 Tags gene-checked
Amber HPDL in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026 Spastic paraplegia 83, autosomal recessive OMIM:619027 Tags gene-checked Q2_25_ promote_green
Green HPDL in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026 Spastic paraplegia 83, autosomal recessive OMIM:619027 Tags gene-checked
Green HPDL in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HPDL Neurodegenerative Disease Tags gene-checked
Green HPDL in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 Tags gene-checked
Green HPDL in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 Tags gene-checked
Green HPDL in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026 Spastic paraplegia 83, autosomal recessive OMIM:619027 Tags gene-checked
Green HPDL in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026 Spastic paraplegia 83, autosomal recessive, OMIM:619027 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 spastic paraplegia 83, autosomal recessive, MONDO:0033614 Tags gene-checked