Genes in panel
STRs in panel
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Primary immunodeficiency

Gene: RELN

Red List (low evidence)

RELN (reelin)
EnsemblGeneIds (GRCh38): ENSG00000189056
EnsemblGeneIds (GRCh37): ENSG00000189056
OMIM: 600514, Gene2Phenotype
RELN is in 18 panels

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

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
Created: 7 Oct 2020, 1:27 p.m.

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

Phenotypes
Ankylosing spondylitis

Publications

History Filter Activity

7 Oct 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

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