Likely inborn error of metabolism

Gene: PEX14

Green List (high evidence)

Comment on mode of inheritance: There are 2 individuals reported with de novo heterozygous PEX14 variants and a mild peroxisome biogenesis disorder. The MOI should remain set to BIALLELIC, until more evidence emerges in support of dominant disease - added watchlist_moi tag.

Created: 17 Mar 2026, 3:13 p.m. | Last Modified: 17 Mar 2026, 3:13 p.m.

Panel Version: 8.100

PMID: 37493040 Waterham et al., 2023
Reported 2 unrelated male individuals with a progressive neurological symptoms consistent with a mild peroxisomal disorder (both alive in their 20s), harbouring de novo heterozygous variants in PEX14: Patient 1 het for c.585+1G>T and patient 2 is het for c.585G>A (NM_004565.2). These variants were shown to result in p.A196Lfs∗34 and p.A196Vfs∗34 frameshift changes respectively.
P1 - Czech, diagnosed at 2yo biochemically and at 12 yrs genetically. Presented with moderate ID, dev delay, ASD features, mild white matter abnormalities, hand tremor, strabismus, cataract, and myopy.
P2 - French , diagnosed at 18yo biochemically and 22 yrs genetically. Presented with demyelinating motor neuropathy and congenital bilateral cataracts. No ID, dev delay, or white matter abnormalities.

PEX14 is currently associated with AR Peroxisome biogenesis disorder 13A (Zellweger), OMIM:614887 and classified as Definitive for AR peroxisome biogenesis disorder in ClinGen (Sept 2019) - resources accessed 17 Mar 2026.

Created: 17 Mar 2026, 3:09 p.m. | Last Modified: 17 Mar 2026, 3:09 p.m.

Panel Version: 8.98

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 13A (Zellweger), OMIM:614887

Publications

• 37493040