Cataracts

Gene: PEX14

Green List (high evidence)

PEX14 (peroxisomal biogenesis factor 14)
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 17 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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)

Green List (high evidence)

Gene and phenotype added from the Manchester congenital cataracts gene panel. Mode of inheritance added from Gene2Phenotype. It is a confirmed DD gene for PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K and ZELLWEGER SYNDROME (includes a cataract phenotype). Associated with Peroxisome biogenesis disorder 13A (Zellweger) in OMIM.
Created: 29 Apr 2016, 3:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX14 was added to Cataractspanel. Sources: Expert list

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PEX14 was created by ellenmcdonagh