Genetic Epilepsy

Gene: PEX6

Red List (low evidence)

PMID: 32399598 (phenotypic expansion) - One patient with compound heterozygous missense variants in PEX6. The initial syndromic presentation of premature ovarian insufficiency and associated hearing loss led to the clinical diagnosis of Perrault syndrome. For the first time, we show that pathogenic variants in PEX6 can present clinically as Perrault syndrome.

Created: 7 Dec 2020, 5:23 a.m. | Last Modified: 7 Dec 2020, 5:23 a.m.

Panel Version: 0.5567

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome

Publications

• PMID: 32399598

Green List (high evidence)

PBD - 4A: more severe disease w/ PTCs, null or minimal activity

HS: less severe, 1 allele w/ residual activity

PBD – 4B: Recurring missense (p.R860W) causes AD disease. Disease depends on if a common UTR variant controlling allelic imbalance is het.

Created: 14 Feb 2020, 4:06 a.m. | Last Modified: 14 Feb 2020, 4:06 a.m.

Panel Version: 0.1357

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 4B; Heimler syndrome 2; Peroxisome biogenesis disorder 4A (Zellweger)

Publications

• PMID: 29220678