PEX1

peroxisomal biogenesis factor 1
OMIM: 602136, Gene2Phenotype

20 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Green PEX1 in Peroxisomal disorders Level 3: Peroxisomal disorders Level 2: Metabolic disorders Version 1.20	review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert list UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 1A (Zellweger) 214100 Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
Green PEX1 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 UKGTN Emory Genetics Laboratory Phenotypes Neonatal and Adult Cholestasis Peroxisome Biogenesis Disorder 1A (Zellweger), 214100 Zellweger syndrome
Green PEX1 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 1A, 214100
Green PEX1 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 Peroxisome biogenesis disorder 1A,B General Leukodystrophy & Mitochondrial Leukoencephalopathy Peroxisome biogenesis disorder 1A (Zellweger)
Green PEX1 in Cholestasis Level 2: Gastrohepatology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Phenotypes Peroxisome Biogenesis Disorder 1A (Zellweger), 214100 Zellweger syndrome Neonatal and Adult Cholestasis
Green PEX1 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 UKGTN Phenotypes Peroxisome biogenesis disorder 1A (Zellweger) Refsum disease infantile Adrenoleukodystrophy neonatal Peroxisome biogenesis disorder
Green PEX1 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 1B (NALD/IRD), 601539
Red PEX1 in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD) (601539) Peroxisome biogenesis disorder 1A (Zellweger) (214100)
Green PEX1 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 1A (Zellweger), 214100 Peroxisome biogenesis disorder 1B (NALD/IRD), 601539
Green PEX1 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 General Leukodystrophy & Mitochondrial Leukoencephalopathy Peroxisome biogenesis disorder 1A,B Peroxisome biogenesis disorder 1A (Zellweger)
Green PEX1 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 Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 1A (Zellweger) 214100
Green PEX1 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 1A (Zellweger) 214100 Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
Green PEX1 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 1B (NALD/IRD) 601539 Peroxisome biogenesis disorder 1A (Zellweger) 214100
Green PEX1 in Amelogenesis imperfecta Level 2: Musculoskeletal Version 4.26 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Eligibility statement prior genetic testing Phenotypes Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta) hypomineralized amelogenesis imperfecta amelogenesis imperfecta Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539 Peroxisome biogenesis disorder 1A (Zellweger), 214100
Green PEX1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ADRENOLEUKODYSTROPHY NEONATAL PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 INFANTILE REFSUM DISEASE
Green PEX1 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 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 602136 ADRENOLEUKODYSTROPHY NEONATAL 202370 INFANTILE REFSUM DISEASE 266510
Amber PEX1 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 Victorian Clinical Genetics Services Phenotypes Peroxisome biogenesis disorder 1A (Zellweger) 214100 Peroxisome biogenesis disorder 1B (NALD/IRD) 601539 Adrenoleukodystrophy
Green PEX1 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 1A (Zellweger), 214100Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 (PBD-CG1)
Green PEX1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Genetic Retinal Degeneration Conditions
Red PEX1 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

PEX1

20 panels

Green PEX1 in Peroxisomal disorders

Sources

Phenotypes

Green PEX1 in Neonatal cholestasis

Sources

Phenotypes

Green PEX1 in Fetal hydrops

Sources

Phenotypes

Green PEX1 in White matter disorders and cerebral calcification - narrow panel

Sources

Phenotypes

Green PEX1 in Cholestasis

Sources

Phenotypes

Green PEX1 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green PEX1 in Adult onset leukodystrophy

Sources

Phenotypes

Red PEX1 in Ductal plate malformation

Sources

Phenotypes

Green PEX1 in Malformations of cortical development

Sources

Phenotypes

Green PEX1 in Inherited white matter disorders

Sources

Phenotypes

Green PEX1 in Arthrogryposis

Sources

Phenotypes

Green PEX1 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green PEX1 in Likely inborn error of metabolism

Sources

Phenotypes

Green PEX1 in Amelogenesis imperfecta

Sources

Phenotypes

Green PEX1 in Fetal anomalies

Sources

Phenotypes

Green PEX1 in DDG2P

Sources

Phenotypes

Amber PEX1 in Early onset or syndromic epilepsy

Sources

Phenotypes

Green PEX1 in Intellectual disability

Sources

Phenotypes

Green PEX1 in Retinal disorders

Sources

Phenotypes

Red PEX1 in Childhood onset dystonia, chorea or related movement disorder

Sources