Hydrops fetalis
Gene: SHOC2

SHOC2 (SHOC2, leucine rich repeat scaffold protein)
EnsemblGeneIds (GRCh38): ENSG00000108061
EnsemblGeneIds (GRCh37): ENSG00000108061
OMIM: 602775, Gene2Phenotype
SHOC2 is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Created: 14 Apr 2022, 6:24 a.m.
Last Modified: 14 Apr 2022, 6:24 a.m.
Panel version: 0.254

Abhijit Kulkarni (Healius Pathology)

Over 40 individuals reported with variants in SHOC2 and Noonan syndrome-like disorder with loose anagen hair. Facial features are similar to those observed in Noonan syndrome.
Gargano et al reported Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.
T.N. Sparks et al published exome analysis in a series of 127 consecutive unexplained cases of Non Immune Hydrops where they reported p.Met173Ile variant in one case.
Created: 14 Apr 2022, 1:24 a.m. | Last Modified: 14 Apr 2022, 1:24 a.m.

Panel Version: 0.254

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome-like with loose anagen hair 1; MIM: #607721

Publications

Created: 14 Apr 2022, 1:24 a.m.
Last Modified: 14 Apr 2022, 1:24 a.m.
Panel version: 0.254

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Noonan syndrome-like with loose anagen hair 1, MIM: #607721

OMIM

602775

Clinvar variants

Variants in SHOC2

Penetrance

None

Publications

Panels with this gene