Pigmentary skin disorders

Gene: IL31RA

Amber List (moderate evidence)

IL31RA (interleukin 31 receptor A)
EnsemblGeneIds (GRCh38): ENSG00000164509
EnsemblGeneIds (GRCh37): ENSG00000164509
OMIM: 609510, Gene2Phenotype
IL31RA is in 3 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

I don't know

South Thames review: Green. But only single instance in literature. Maintain as Amber?
Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Amyloidosis, primary localized cutaneous, 2, 613955

Catherine Snow (Genomics England)

I don't know

This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:IL31RA; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.13

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
OMIM
609510
Clinvar variants
Variants in IL31RA
Penetrance
None
Panels with this gene

History Filter Activity

2 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: IL31RA was added gene: IL31RA was added to Pigmentary skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: IL31RA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown