Hydrops fetalis
Gene: RIT1

RIT1 (Ras like without CAAX 1)
EnsemblGeneIds (GRCh38): ENSG00000143622
EnsemblGeneIds (GRCh37): ENSG00000143622
OMIM: 609591, Gene2Phenotype
RIT1 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome-8, MIM:#615355

Created: 14 Apr 2022, 6:27 a.m.
Last Modified: 14 Apr 2022, 6:27 a.m.
Panel version: 0.260

Abhijit Kulkarni (Healius Pathology)

Bertola et al. (2014) reported 6 unrelated Brazilian patients with Noonan syndrome-8. The patients had a high frequency of abnormal findings on prenatal ultrasound, mainly polyhydramnios and fetal hydrops, high birthweight (mean of 4,342 g), relative macrocephaly, left ventricular hypertrophy, and ectodermal findings such as curly hair, hyperpigmentation, and wrinkled palms and soles.
Created: 14 Apr 2022, 1:31 a.m. | Last Modified: 14 Apr 2022, 1:31 a.m.

Panel Version: 0.254

Phenotypes
Noonan syndrome-8; MIM:#615355

Publications

Created: 14 Apr 2022, 1:31 a.m.
Last Modified: 14 Apr 2022, 1:31 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-8, MIM:#615355

OMIM

609591

Clinvar variants

Variants in RIT1

Penetrance

None

Publications

Panels with this gene