Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: KCNA5
Comment on list classification: PMID:34536415 reported a 17-year old female patient with early-onset pulmonary and cutaneous vasculitis and biallelic KCNA5 variant (c. 1545C>A) and supporting functional evidence.
Biallelic KCNA5 variants have not yet been associated with any phenotypes either in OMIM or Gene2Phenotype.
This gene should be rated amber with current evidence.Created: 4 Jan 2024, 10:38 a.m. | Last Modified: 4 Jan 2024, 10:38 a.m.
Panel Version: 4.141
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
early-onset pulmonary and cutaneous vasculitis, MONDO:0800137
Publications
Gene: kcna5 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: KCNA5 were changed from autoimmunity; autoinflammation to early-onset pulmonary and cutaneous vasculitis, MONDO:0800137
Publications for gene: KCNA5 were set to PMID: 35748970; PMID: 34536415
gene: KCNA5 was added gene: KCNA5 was added to Primary immunodeficiency. Sources: Literature,Expert Review Mode of inheritance for gene: KCNA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNA5 were set to PMID: 35748970; PMID: 34536415 Phenotypes for gene: KCNA5 were set to autoimmunity; autoinflammation Review for gene: KCNA5 was set to GREEN