Prepair 1000+

Gene: PEX16

Green List (high evidence)

Zellweger spectrum disorder (ZSD) is a phenotypic continuum ranging from severe to mild.

On the severe end, affected newborns are hypotonic and feed poorly, present distinctive facies, congenital malformations, and liver disease. Infants with severe ZSD are significantly impaired and typically die during the first year of life, usually having made no developmental progress (GeneReviews PMID: 20301621).

Individuals with intermediate/milder ZSD do not have congenital malformations, but present liver disease with neurologic involvement (ataxia, polyneuropathy, and leukodystrophy). Even though growth and development are normal in first year of life, as a progressive disorder patients become wheelchair bound (OMIM, GeneReviews PMID: 20301621).

Variants resulting in a null allele typically result in a more severe phenotype (8A ZS), whereas missense and inframe-deletion that retain residual function result in a milder phenotype (8B) (PMIDs: 11890679; 9837814; 20647552; 20301621; 30078639).

Created: 16 Jan 2025, 9:24 p.m. | Last Modified: 16 Jan 2025, 9:24 p.m.

Panel Version: 1.1064

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Peroxisome biogenesis disorder 8B MIM#614877

Publications

• 11890679
• 9837814
• 20647552
• 20301621
• 30078639