Hereditary Neuropathy - complex

Gene: PEX7

Red List (low evidence)

PEX7 (peroxisomal biogenesis factor 7)
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 24 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Neuropathy not a well-established feature of condition.

PMID: 20301447 - Identified c.-45C>T mutation in PEX7 in one individual with peripheral neuropathy and retinitis pigmentosa.
Created: 7 Aug 2023, 6:16 a.m. | Last Modified: 7 Aug 2023, 6:16 a.m.
Panel Version: 0.215

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 9B (MIM#614879)

Publications

History Filter Activity

8 Aug 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex7 has been classified as Red List (Low Evidence).

8 Aug 2023, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PEX7 were set to

8 Aug 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pex7 has been classified as Red List (Low Evidence).

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PEX7 was added gene: PEX7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Refsum disease; Phytanic acid storage disease