Autism
Gene: RELN

RELN (reelin)
EnsemblGeneIds (GRCh38): ENSG00000189056
EnsemblGeneIds (GRCh37): ENSG00000189056
OMIM: 600514, Gene2Phenotype
RELN is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

the phenotype caused by mono-allelic variants is of predominantly severe ID, weak evidence for association between bi-allelic variants and ASD.
Created: 11 Jun 2021, 4:26 a.m. | Last Modified: 11 Jun 2021, 4:26 a.m.

Panel Version: 0.158

Phenotypes
Lissencephaly 2 (Norman-Roberts type), MIM# 257320

Created: 11 Jun 2021, 4:26 a.m.
Last Modified: 11 Jun 2021, 4:26 a.m.
Panel version: 0.158

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

Vast majority of variants reported in individuals with are mono-allelic (PMID: 28419454); however, one individual with mild to moderate ASD has been found to be compound heterozygous for RELN missense variants.
Patient iPSC-derived neural progenitor cells (NPCs) resulted in diminished Reelin secretion and impaired Reelin–DAB1 signal transduction.
The functional consequence of the missense variants were not individually evaluated.
Created: 7 Jun 2021, 6:31 a.m. | Last Modified: 7 Jun 2021, 6:31 a.m.

Panel Version: 0.158

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
ASD

Publications

PMID: 28419454
29969175

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Jun 2021, 6:31 a.m.
Last Modified: 7 Jun 2021, 6:31 a.m.
Panel version: 0.158

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Lissencephaly 2 (Norman-Roberts type), MIM# 257320
ASD

OMIM

600514

Clinvar variants

Variants in RELN

Penetrance

None

Publications

Panels with this gene