PEX10

peroxisomal biogenesis factor 10
OMIM: 602859, Gene2Phenotype

20 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Green PEX10 in Peroxisomal disorders Level 3: Peroxisomal disorders Level 2: Metabolic disorders Version 1.20	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) 614870 Peroxisome biogenesis disorder 6B 614871
Green PEX10 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Emory Genetics Laboratory Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) 614870 Peroxisome biogenesis disorder 6B 614871
Green PEX10 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Zellweger, peroxisome biogenesis disorder 6A Peroxisome biogenesis disorder 6A (Zellweger), 614870 Peroxisome biogenesis disorder 6B, 614871
Green PEX10 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.11 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 Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome ZELLWEGER SYNDROME PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
Green PEX10 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Peroxisome biogenesis disorder
Green PEX10 in Adult onset leukodystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 6B, 614871
Red PEX10 in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) (614870) Peroxisome biogenesis disorder 6B (614871)
Green PEX10 in Malformations of cortical development Level 2: Neurology Version 7.30 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 6A (Zellweger), 614870 Peroxisome biogenesis disorder 6B, 614871
Green PEX10 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Peroxisome-Associated Disorders & Zellweger Syndrome PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 ZELLWEGER SYNDROME
Green PEX10 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) 614870
Green PEX10 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 6A (Zellweger) 614870 Peroxisome biogenesis disorder 6B 614871
Green PEX10 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 London North GLH NHS GMS Expert Review Green Phenotypes Disorders of peroxisome biogenesis Peroxisome biogenesis disorder 6A (Zellweger) 614870 Peroxisome biogenesis disorder 6B 614871
Green PEX10 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ADRENOLEUKODYSTROPHY NEONATAL ZELLWEGER SYNDROME PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
Green PEX10 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 ZELLWEGER SYNDROME 214100 ADRENOLEUKODYSTROPHY NEONATAL 202370 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 602859
Green PEX10 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH Phenotypes Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described Peroxisome biogenesis disorder 6A (Zellweger), 614870 Peroxisome biogenesis disorder 6B, 614871
Amber PEX10 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 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 Amber Wessex and West Midlands GLH NHS GMS Literature Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) 614870
Green PEX10 in Intellectual disability Level 2: Developmental disorders Version 9.279 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 Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870Peroxisome biogenesis disorder 6B, 614871 ADRENOLEUKODYSTROPHY NEONATAL (NALD)
Red PEX10 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Peroxisome biogenesis disorder 6B, 614871
Green PEX10 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 London North GLH NHS GMS NHS GMS London North GLH Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870 Failure to thrive, facial dismorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described Peroxisome biogenesis disorder 6B, 614871
Red PEX10 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH

PEX10

20 panels

Green PEX10 in Peroxisomal disorders

Sources

Phenotypes

Green PEX10 in Neonatal cholestasis

Sources

Phenotypes

Green PEX10 in Fetal hydrops

Sources

Phenotypes

Green PEX10 in White matter disorders and cerebral calcification - narrow panel

Sources

Phenotypes

Green PEX10 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green PEX10 in Adult onset leukodystrophy

Sources

Phenotypes

Red PEX10 in Ductal plate malformation

Sources

Phenotypes

Green PEX10 in Malformations of cortical development

Sources

Phenotypes

Green PEX10 in Inherited white matter disorders

Sources

Phenotypes

Green PEX10 in Arthrogryposis

Sources

Phenotypes

Green PEX10 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green PEX10 in Likely inborn error of metabolism

Sources

Phenotypes

Green PEX10 in Fetal anomalies

Sources

Phenotypes

Green PEX10 in DDG2P

Sources

Phenotypes

Green PEX10 in Hereditary neuropathy

Sources

Phenotypes

Amber PEX10 in Early onset or syndromic epilepsy

Sources

Phenotypes

Green PEX10 in Intellectual disability

Sources

Phenotypes

Red PEX10 in Structural eye disease

Sources

Phenotypes

Green PEX10 in Hereditary neuropathy or pain disorder

Sources

Phenotypes

Red PEX10 in Childhood onset dystonia, chorea or related movement disorder

Sources