Bilateral congenital or childhood onset cataracts
Gene: PEX16EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for Zellweger syndrome (which includes cataracts), and Peroxisome biogenesis disorder complementation group 9. More than 3 unrelated cases reported in OMIM.Created: 29 Apr 2016, 1:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 8A, (Zellweger)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Peroxisome biogenesis disorder 8A, (Zellweger)
- Peroxisome biogenesis disorder
- OMIM
- 603360
- Clinvar variants
- Variants in PEX16
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Hereditary ataxia, adult onset
- Likely inborn error of metabolism
- Peroxisomal disorders
- Bilateral congenital or childhood onset cataracts
- Leukodystrophy, adult onset
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia
- Dystonia, chorea or related movement disorder, childhood onset
- Fetal hydrops
- Ataxia and cerebellar anomalies - childhood onset
- Arthrogryposis
- Neurodegenerative disorders, adult onset
- Ductal plate malformation
- Fetal anomalies
- Structural eye disease
- DDG2P
- Neonatal cholestasis
- Malformations of cortical development
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX16 were set to Peroxisome biogenesis disorder 8A, (Zellweger);Peroxisome biogenesis disorder
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX16 were set to Peroxisome biogenesis disorder 8A, (Zellweger)
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PEX16 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()PEX16 was added to Cataractspanel. Sources: UKGTN