PEX16

peroxisomal biogenesis factor 16
OMIM: 603360, Gene2Phenotype

21 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 21 panels
Green PEX16 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 Emory Genetics Laboratory Expert list Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), 614876 Zellweger Syndrome Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisomal biogenesis disorders
Green PEX16 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 8A (Zellweger) 614876
Green PEX16 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 Peroxisome biogenesis disorder 8B, 614877 Peroxisome biogenesis disorder 8A, (Zellweger), 614876
Green PEX16 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 8A, (Zellweger) Peroxisome biogenesis disorder 8B PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
Green PEX16 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Zellweger syndrome (614876) Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
Green PEX16 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 8A, (Zellweger) Peroxisome biogenesis disorder
Green PEX16 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 8A (Zellweger), 614876 Peroxisome biogenesis disorder 8B, 614877
Green PEX16 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis Zellweger syndrome (614876)
Red PEX16 in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen, Expert list Phenotypes Peroxisome biogenesis disorder 8A (Zellweger) (614876) Peroxisome biogenesis disorder 8B (614877)
Green PEX16 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 8A, (Zellweger), 614876 Zellweger Syndrome Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisomal biogenesis disorders
Green PEX16 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 8A, (Zellweger) Peroxisome biogenesis disorder 8B PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9
Green PEX16 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 Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Peroxisome biogenesis disorder 8A (Zellweger) 614876
Red PEX16 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Zellweger syndrome (614876) Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
Green PEX16 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 8A, (Zellweger), 614876 Zellweger Syndrome Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisomal biogenesis disorders
Green PEX16 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 Disorders, Zellweger Syndrome Spectrum Peroxisome biogenesis disorder 8A, (Zellweger), 614876 Peroxisomal biogenesis disorders Zellweger Syndrome
Green PEX16 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 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 ZELLWEGER SYNDROME
Green PEX16 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 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360
Green PEX16 in Intellectual disability Level 2: Developmental disorders Version 9.281 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 8A, (Zellweger), 614876Peroxisome biogenesis disorder 8B, 614877 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 (PBD-CG9)
Green PEX16 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Zellweger syndrome (614876) Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis Peroxisome biogenesis disorder 8B, 614877 Peroxisome biogenesis disorder 8A, 614876
Red PEX16 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 8B, 614877
Red PEX16 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

PEX16

21 panels

Green PEX16 in Peroxisomal disorders

Sources

Phenotypes

Green PEX16 in Neonatal cholestasis

Sources

Phenotypes

Green PEX16 in Fetal hydrops

Sources

Phenotypes

Green PEX16 in White matter disorders and cerebral calcification - narrow panel

Sources

Phenotypes

Green PEX16 in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Green PEX16 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green PEX16 in Adult onset leukodystrophy

Sources

Phenotypes

Green PEX16 in Hereditary ataxia

Sources

Phenotypes

Red PEX16 in Ductal plate malformation

Sources

Phenotypes

Green PEX16 in Malformations of cortical development

Sources

Phenotypes

Green PEX16 in Inherited white matter disorders

Sources

Phenotypes

Green PEX16 in Arthrogryposis

Sources

Phenotypes

Red PEX16 in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green PEX16 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green PEX16 in Likely inborn error of metabolism

Sources

Phenotypes

Green PEX16 in Fetal anomalies

Sources

Phenotypes

Green PEX16 in DDG2P

Sources

Phenotypes

Green PEX16 in Intellectual disability

Sources

Phenotypes

Green PEX16 in Hereditary ataxia with onset in adulthood

Sources

Phenotypes

Red PEX16 in Structural eye disease

Sources

Phenotypes

Red PEX16 in Childhood onset dystonia, chorea or related movement disorder

Sources