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  2. Hereditary Neuropathy_CMT - isolated
  3. PRX
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Hereditary Neuropathy_CMT - isolated

Gene: PRX

Green List (high evidence)
PRX (periaxin)
EnsemblGeneIds (GRCh38): ENSG00000105227
EnsemblGeneIds (GRCh37): ENSG00000105227
OMIM: 605725, Gene2Phenotype
PRX is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Predominantly bi-allelic variants are associated with neuropathy, rare reports of mono-allelic variants.
Created: 29 May 2021, 10:18 a.m. | Last Modified: 29 May 2021, 10:20 a.m.
Panel Version: 0.204

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 4F, MIM# 614895; Dejerine-Sottas disease, MIM# 145900

Publications

Created: 29 May 2021, 10:18 a.m.
Last Modified: 29 May 2021, 10:20 a.m.
Panel version: 0.204

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Dejerine Sottas disease, autosomal recessive, 145900
  • Charcot Marie Tooth disease, type 4F, 614895
  • HMSN
OMIM
605725
Clinvar variants
Variants in PRX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRX were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PRX was added gene: PRX was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRX were set to Dejerine Sottas disease, autosomal recessive, 145900; Charcot Marie Tooth disease, type 4F, 614895; HMSN