PEX6

peroxisomal biogenesis factor 6
OMIM: 601498, Gene2Phenotype

23 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 23 panels
Green PEX6 in Peroxisomal disorders Level 3: Peroxisomal disorders Level 2: Metabolic disorders Version 1.20	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list UKGTN Emory Genetics Laboratory Phenotypes Heimler syndrome 2, OMIM:616617 Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863
Green PEX6 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 4A (Zellweger) 614862
Green PEX6 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863
Green PEX6 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863
Green PEX6 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Peroxisome biogenesis disorder 4B, OMIM:614863
Green PEX6 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 4A (Zellweger) 614862
Green PEX6 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 Heimler syndrome 2, OMIM:616617
Green PEX6 in Adult onset leukodystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Peroxisome biogenesis disorder 4B, 614863 Peroxisome biogenesis disorder 4A (Zellweger), 614862
Red PEX6 in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) (614862) Peroxisome biogenesis disorder 4B (614863)
Green PEX6 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Literature Expert Review Green Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863
Green PEX6 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863
Green PEX6 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Heimler syndrome 2, OMIM:616617 Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863
Green PEX6 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heimler syndrome 2, OMIM:616617 Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863
Green PEX6 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862 peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930 Peroxisome biogenesis disorder 4B OMIM:614863 peroxisome biogenesis disorder 4B MONDO:0013931
Green PEX6 in Amelogenesis imperfecta Level 2: Musculoskeletal Version 4.26 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Eligibility statement prior genetic testing Phenotypes Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta) Peroxisome biogenesis disorder 4A (Zellweger), 614862 Peroxisome biogenesis disorder 4B, 614863
Green PEX6 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Heimler syndrome 2, OMIM:616617 Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863
Green PEX6 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 Heimler syndrome 2, OMIM:616617 Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863
Amber PEX6 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Literature Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) 614862 Peroxisome biogenesis disorder 4B 614863
Green PEX6 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863
Green PEX6 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863
Green PEX6 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Heimler syndrome 2, OMIM:616617 MONDO:0014709 Peroxisome biogenesis disorder 4B, OMIM:614863
Red PEX6 in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Phenotypes Peroxisome biogenesis disorder 4B, 614863
Red PEX6 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

PEX6

23 panels

Green PEX6 in Peroxisomal disorders

Sources

Phenotypes

Green PEX6 in Neonatal cholestasis

Sources

Phenotypes

Green PEX6 in Fetal hydrops

Sources

Phenotypes

Green PEX6 in White matter disorders and cerebral calcification - narrow panel

Sources

Phenotypes

Green PEX6 in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Green PEX6 in Cholestasis

Sources

Phenotypes

Green PEX6 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green PEX6 in Adult onset leukodystrophy

Sources

Phenotypes

Red PEX6 in Ductal plate malformation

Sources

Phenotypes

Green PEX6 in Malformations of cortical development

Sources

Phenotypes

Green PEX6 in Inherited white matter disorders

Sources

Phenotypes

Green PEX6 in Arthrogryposis

Sources

Phenotypes

Green PEX6 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green PEX6 in Likely inborn error of metabolism

Sources

Phenotypes

Green PEX6 in Amelogenesis imperfecta

Sources

Phenotypes

Green PEX6 in Fetal anomalies

Sources

Phenotypes

Green PEX6 in DDG2P

Sources

Phenotypes

Amber PEX6 in Early onset or syndromic epilepsy

Sources

Phenotypes

Green PEX6 in Intellectual disability

Sources

Phenotypes

Green PEX6 in Hereditary ataxia with onset in adulthood

Sources

Phenotypes

Green PEX6 in Retinal disorders

Sources

Phenotypes

Red PEX6 in Structural eye disease

Sources

Phenotypes

Red PEX6 in Childhood onset dystonia, chorea or related movement disorder

Sources