Macrocephaly_Megalencephaly
Gene: SPRED1

SPRED1 (sprouty related EVH1 domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000166068
EnsemblGeneIds (GRCh37): ENSG00000166068
OMIM: 609291, Gene2Phenotype
SPRED1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple affected individuals reported, deletions account for ~10% of causative variants. Legius syndrome is characterised by multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as hypertelorism or macrocephaly, lipomas, and mild learning disabilities or attention problems. It is not associated with neurofibromas, optic gliomas, Lisch nodules, or tumor predisposition. The SPRED1 gene encodes a negative regulator of the RAS-MAPK pathway, similar to neurofibromin.
Created: 11 Sep 2020, 10:21 p.m. | Last Modified: 11 Sep 2020, 10:21 p.m.

Panel Version: 0.49

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Legius syndrome, MIM# 611431

Publications

Created: 11 Sep 2020, 10:21 p.m.
Last Modified: 11 Sep 2020, 10:21 p.m.
Panel version: 0.49

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Legius syndrome, MIM# 611431

OMIM

609291

Clinvar variants

Variants in SPRED1

Penetrance

None

Publications

Panels with this gene