Structural eye disease
Gene: PEX16

PEX16 (peroxisomal biogenesis factor 16)
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 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 8B; 614877

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 8B; 614877

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

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 8B, 614877

OMIM

603360

Clinvar variants

Variants in PEX16

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: PEX16 was added gene: PEX16 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8B, 614877

Structural eye disease Gene: PEX16