Structural eye disease
Gene: PEX14

PEX14 (peroxisomal biogenesis factor 14)
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 18 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

FC
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 13A (Zellweger); 614887

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC
Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 13A (Zellweger); 614887

Created: 17 Apr 2019, 3:31 p.m.

Panel version: 0.49

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS

Phenotypes

Peroxisome biogenesis disorder 13A (Zellweger), 614887

OMIM

601791

Clinvar variants

Variants in PEX14

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: PEX14 was added gene: PEX14 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger), 614887

Structural eye disease Gene: PEX14