Microcephaly
Gene: RTTN

RTTN (rotatin)
EnsemblGeneIds (GRCh38): ENSG00000176225
EnsemblGeneIds (GRCh37): ENSG00000176225
OMIM: 610436, Gene2Phenotype
RTTN is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported, severe microcephaly.
Created: 1 Apr 2021, 6:32 a.m. | Last Modified: 1 Apr 2021, 6:32 a.m.

Panel Version: 0.605

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833; Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764

Publications

Created: 1 Apr 2021, 6:32 a.m.
Last Modified: 1 Apr 2021, 6:32 a.m.
Panel version: 0.605

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833
Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764

OMIM

610436

Clinvar variants

Variants in RTTN

Penetrance

None

Publications

Panels with this gene