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Severe microcephaly

Gene: TP53RK

Amber List (moderate evidence)

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

2 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Promoting from grey to amber, but with a recommendation for green rating following GMS review. Following consultation with the Genomics England clinical team it was decided that a green recommendation would be appropriate as primary microcephaly might be the presenting feature before renal issues appear.
Created: 30 Jun 2021, 12:05 p.m. | Last Modified: 30 Jun 2021, 12:05 p.m.
Panel Version: 2.211
Associated with Galloway-Mowat syndrome 4 #617730 (AR) in OMIM with microcephaly as a clinical feature.

PMID:28805828 - Braun et al 2017 - using WES and high-throughput exon sequencing they screened the coding regions of OSGEP, TP53RK, TPRKB and LAGE3 in 907 individuals with Nephrotic syndrome including 91 individuals with Galloway-Mowat syndrome and found TP53RK mutations in 4 individuals from 3 families (2 siblings were compound het, 2 others were homozygous). Parents were heterozygous. All had primary microcephaly but the severity is not stated.

PMID:30053862 - Sun Hyan et al 2018 - report a family with 3 siblings with GAMOS in which a TP53RK mutation (NM_033550, c.194A > T, p.Lys65Met) was identified using WES. The 3 patients had similar phenotypes with very early-onset nephrotic syndrome (8 days, 1 day, and 1 day after birth, respectively), microcephaly, dysmorphic faces, and early fatality. Head circumference of all at birth was <3rd percentile.
Created: 26 May 2021, 9:58 p.m. | Last Modified: 26 May 2021, 9:58 p.m.
Panel Version: 2.187

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 4, OMIM:17730

Publications

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
  • Expert Review Amber
Phenotypes
  • Galloway-Mowat syndrome 4, OMIM:617730
Tags
Q2_21_rating
OMIM
608679
Clinvar variants
Variants in TP53RK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: tp53rk has been classified as Amber List (Moderate Evidence).

30 Jun 2021, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: TP53RK.

26 May 2021, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TP53RK were changed from Galloway-Mowat syndrome 4, MIM# 617730 to Galloway-Mowat syndrome 4, OMIM:617730

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