Fetal hydrops
Gene: PEX16EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Green: PMID:20033294 (Dursun et al., 2009) and other reviews (e.g. Table 3 of PMID:23137060) suggest that peroxisomal disorders should be considered in the etiology of hydrops fetalis. PEX16 is on the NGS Non-immune Hydrops Panel for Greenwood Genetic centre: http://www.ggc.org/images/NGS_Hydrops_Panel_Genes_and_Conditions.pdf.Created: 21 Dec 2016, 1:59 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Peroxisome biogenesis disorder 8B, 614877
- Peroxisome biogenesis disorder 8A, (Zellweger), 614876
- OMIM
- 603360
- Clinvar variants
- Variants in PEX16
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Peroxisomal disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Structural eye disease
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Fetal hydrops
- Adult onset leukodystrophy
- Malformations of cortical development
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- White matter disorders and cerebral calcification - narrow panel
- Ductal plate malformation
- Arthrogryposis
- Hereditary ataxia
- Neonatal cholestasis
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Created
Rebecca Foulger (Genomics England curator)PEX16 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)PEX16 was added to Fetal hydropspanel. Sources: Other