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Prepair 1000+

Gene: PEX16

Green List (high evidence)

PEX16 (peroxisomal biogenesis factor 16)
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 17 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

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

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex16 has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PEX16 were changed from Peroxisome biogenesis disorder 8A, (Zellweger), 614876 to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Peroxisome biogenesis disorder 8B MIM#614877

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PEX16 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), 614876 for gene: PEX16

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PEX16 was added gene: PEX16 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A, (Zellweger), 614876