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Severe microcephaly

Gene: TP53RK

No list

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

1 review

Zornitza Stark (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

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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: 0

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

Zornitza Stark (Australian Genomics)

gene: TP53RK was added gene: TP53RK was added to Severe microcephaly. 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 gene: TP53RK was marked as current diagnostic