Lissencephaly and Band Heterotopia
Gene: RELN

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 35769015: 13 individuals from seven families with monoallelic (heterozygous) variants of RELN and frontotemporal or temporal-predominant lissencephaly variant. Some individuals with monoallelic variants had moderate frontotemporal lissencephaly, but with normal cerebellar structure and intellectual disability with severe behavioural dysfunction. However, one adult had abnormal MRI with normal intelligence and neurological profile.

Additional 7 individuals from 4 families with bi-allelic variants.
Created: 14 Jul 2022, 12:30 a.m. | Last Modified: 14 Jul 2022, 12:31 a.m.

Panel Version: 1.7

Accounts for a very small proportion of lissencephaly (<1%), with few reported families. Well described mouse model.
Created: 29 Aug 2020, 4:15 a.m. | Last Modified: 29 Aug 2020, 4:15 a.m.

Panel Version: 0.104

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Created: 29 Aug 2020, 4:15 a.m.
Last Modified: 14 Jul 2022, 12:31 a.m.
Panel version: 1.7

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformations Flagship

Phenotypes

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

OMIM

600514

Clinvar variants

Variants in RELN

Penetrance

None

Publications

Panels with this gene