Mackenzie's Mission_Reproductive Carrier Screening
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.
Sources: Expert Review
Created: 4 Sep 2020, 2:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 4, MIM# 617730

Publications

Created: 4 Sep 2020, 2:16 a.m.

Panel version: 0.14

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review

Phenotypes

Galloway-Mowat syndrome 4, MIM# 617730

OMIM

608679

Clinvar variants

Variants in TP53RK

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 Sep 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TP53RK was added gene: TP53RK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review Mode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP53RK were set to 28805828; 30053862 Phenotypes for gene: TP53RK were set to Galloway-Mowat syndrome 4, MIM# 617730 Review for gene: TP53RK was set to GREEN

Mackenzie's Mission_Reproductive Carrier Screening Gene: TP53RK