Microcephaly
Gene: TP53RK

TP53RK (TP53 regulating kinase)
EnsemblGeneIds (GRCh38): ENSG00000172315
EnsemblGeneIds (GRCh37): ENSG00000172315
OMIM: 608679, Gene2Phenotype
TP53RK is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 unrelated families reported with renal-neurologic disease characterised by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most individuals have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable.
Created: 4 Sep 2020, 2:10 a.m. | Last Modified: 4 Sep 2020, 2:10 a.m.

Panel Version: 0.446

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 4, MIM# 617730

Publications

Created: 4 Sep 2020, 2:10 a.m.
Last Modified: 4 Sep 2020, 2:10 a.m.
Panel version: 0.446

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Galloway-Mowat syndrome 4, MIM# 617730

OMIM

608679

Clinvar variants

Variants in TP53RK

Penetrance

None

Publications

Panels with this gene