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Gene: PEX11B

Green List (high evidence)
PEX11B (peroxisomal biogenesis factor 11 beta)
EnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 14 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy. Additionally, recurrent migraine-like episodes following mental stress or physical exertion have also been reported.
31724321 - 2 affected siblings. homozygous variants. c.277C>T
22581968 - 1 patient, homozygous non-sense.
28129423 - 5 affected individuals from 3 unrelated families.
38423277 - 2 affected siblings, homozygous for c.11G > A, p. Trp4Ter
39092477 - 2 affected siblings, homozygous for c.2T > G (p.Met1?)
33558817 - 1 affected, milder presentation compared with other reports in literature.
Created: 2 Dec 2024, 4:56 a.m. | Last Modified: 2 Dec 2024, 4:56 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 14B MIM#614920

Publications

Created: 2 Dec 2024, 4:56 a.m.
Last Modified: 2 Dec 2024, 4:56 a.m.
Panel version: 1.633

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex11b has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PEX11B were changed from Peroxisome biogenesis disorder 14B, 614920 (3) to Peroxisome biogenesis disorder 14B MIM#614920

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PEX11B were set to

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: PEX11B was added gene: PEX11B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B, 614920 (3)