Hereditary ataxia
Gene: PEX16

PEX16 (peroxisomal biogenesis factor 16)
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 panels

1 review

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Loads of evidence in literature
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Zellweger syndrome (614876)

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Nov 2015, 4:57 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
Zellweger syndrome (614876)

OMIM

603360

Clinvar variants

Variants in PEX16

Penetrance

Complete

Panels with this gene

History Filter Activity

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Nov 2015, Gel status: 0

Added New Source

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

PEX16 was added to Hereditary ataxiapanel. Sources: Expert Review