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  3. PEX16
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Ataxia - paediatric

Gene: PEX16

Green List (high evidence)
PEX16 (peroxisomal biogenesis factor 16)
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 17 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple families reported
Created: 28 Apr 2022, 11:42 a.m. | Last Modified: 28 Apr 2022, 11:42 a.m.
Panel Version: 0.13429

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 8A (Zellweger) - MIM#614876; Peroxisome biogenesis disorder 8B - MIM#614877

Publications

Created: 28 Apr 2022, 11:42 a.m.
Last Modified: 28 Apr 2022, 11:42 a.m.
Panel version: Imported from Mendeliome panel version 0.13429

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Zellweger syndrome (614876)
  • Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
  • Peroxisome biogenesis disorder 8A, 614876
  • Peroxisome biogenesis disorder 8B, 614877
OMIM
603360
Clinvar variants
Variants in PEX16
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PEX16 was added gene: PEX16 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Zellweger syndrome (614876); Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Peroxisome biogenesis disorder 8A, 614876; Peroxisome biogenesis disorder 8B, 614877