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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.204 | RELN |
Eleanor Williams gene: RELN was added gene: RELN was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: RELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RELN were set to 32001840 Phenotypes for gene: RELN were set to Ankylosing spondylitis Review for gene: RELN was set to RED Added comment: PMID: 32001840 - Garshasbi et al 2020. Report a large consanguineous Iranian family with ankylosing spondylitis and a heterozygous variant in RELN. After consultation with the Genomics England clinical team it was decided to add this gene to the PID panel with a red rating until the phenotype association is confirmed. In general there is local spinal inflammation, rather than a systemic inflammatory response. Sources: Literature |
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