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  3. PLEKHN1
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Pain syndromes

Gene: PLEKHN1

Red List (low evidence)
PLEKHN1 (pleckstrin homology domain containing N1)
EnsemblGeneIds (GRCh38): ENSG00000187583
EnsemblGeneIds (GRCh37): ENSG00000187583
PLEKHN1 is in 2 panels

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Hom missense variant in single patient with severely reduced/absent pain and temperature sensation
Sources: Literature
Created: 11 Jun 2021, 5:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sensory Neuropathy

Publications

Created: 11 Jun 2021, 5:55 a.m.

Panel version: 0.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sensory Neuropathy
Clinvar variants
Variants in PLEKHN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: plekhn1 has been classified as Red List (Low Evidence).

11 Jun 2021, Gel status: 1

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: PLEKHN1 was added gene: PLEKHN1 was added to Pain syndromes. Sources: Literature Mode of inheritance for gene: PLEKHN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHN1 were set to 33884296 Phenotypes for gene: PLEKHN1 were set to Sensory Neuropathy