Peroxisomal disorders
Gene: PEX16
PEX16 (peroxisomal biogenesis factor 16)
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and G2P. At least four homozygous variants reportedCreated: 23 Aug 2016, 1:14 p.m.
Comment on publications: PEX16 is not mentioned in 5655951. Supporting Drosphila model reported in 21826223Created: 23 Aug 2016, 1:11 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER 8B
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Peroxisome biogenesis disorder 8A, (Zellweger), 614876
- Zellweger Syndrome
- Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
- Peroxisomal biogenesis disorders
- OMIM
- 603360
- Clinvar variants
- Variants in PEX16
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Structural eye disease
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
3 Oct 2016, Gel status: 3
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 3rd October 2016
23 Aug 2016, Gel status: 3
Set publications
Sarah Leigh (Genomics England Curator)Publications for PEX16 were set to 26870756; 26644994; 21826223; 20647552
19 Aug 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)PEX16 was created by sleigh
19 Aug 2016, Gel status: 3
Added New Source
Sarah Leigh (Genomics England Curator)PEX16 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list