Structural eye disease
Gene: PEX5
FC - Peroxisome biogenesis disorder 2B can include congenital cataracts. See for example PMID: 26220973: In four patients with RCDP from two independent families, we identified a homozygous frame shift mutation c.722dupA (p.Val242Glyfs(?)33) in PEX5) + mouse model (Nes-Pex5 knock-out mice developed cataract, abnormal plantar reflexes, and hindlimb flexion, PMID: 18400901)Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 2B; 202370
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - Peroxisome biogenesis disorder 2B can include congenital cataracts. See for example PMID: 26220973: In four patients with RCDP from two independent families, we identified a homozygous frame shift mutation c.722dupA (p.Val242Glyfs(?)33) in PEX5) + mouse model (Nes-Pex5 knock-out mice developed cataract, abnormal plantar reflexes, and hindlimb flexion, PMID: 18400901)Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 2B; 202370
gene: PEX5 was added gene: PEX5 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2B, 202370