Arthrogryposis
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
1 review
Alice Gardham (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 8A (Zellweger) 614876
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 603360
- Clinvar variants
- Variants in PEX16
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- White matter disorders and cerebral calcification - childhood onset
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- Ataxia and cerebellar anomalies - childhood onset
- Peroxisomal disorders
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Leukodystrophy, adult onset
- Undiagnosed metabolic disorders
- Malformations of cortical development
- Inherited white matter disorders
- Hereditary ataxia
- Fetal hydrops
- Arthrogryposis
- Intellectual disability
- Ductal plate malformation
- Structural eye disease
- Dystonia, chorea or related movement disorder, childhood onset
- DDG2P
- Neonatal cholestasis
History Filter Activity
16 Jan 2017, Gel status: 4
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
11 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
11 Jan 2017, Gel status: 0
Created
Alice Gardham (Genomics England)PEX16 was created by agardham
11 Jan 2017, Gel status: 3
Added New Source
Alice Gardham (Genomics England)PEX16 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN