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Severe microcephaly

Gene: TPRKB

Red List (low evidence)

TPRKB (TP53RK binding protein)
EnsemblGeneIds (GRCh38): ENSG00000144034
EnsemblGeneIds (GRCh37): ENSG00000144034
OMIM: 608680, Gene2Phenotype
TPRKB is in 4 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Promoting this gene from grey to red. 2 unrelated cases reported but the degree of microcephaly is not reported, so can't confirm it is in the severe range.
Created: 27 May 2021, 6:13 p.m. | Last Modified: 27 May 2021, 6:13 p.m.
Panel Version: 2.191
Associated with Galloway-Mowat syndrome 5 #617731 (AR) in OMIM and microcephaly is reported as a clinical feature.

PMID:28805828 - Braun et al 2017 - report 2 unrelated patients with GAMOS5 and homozygous missense variants in TPRKB. Both had primary microcephaly but the degree is not reported, as well as steroid resistant nephrotic syndrome and focal segmental glomerulosclerosis. Variants were inherited from heterozygous parents.

PMID:30053862 - is a report about patients with variants in TP53RK not TPRKB
Created: 27 May 2021, 6:12 p.m. | Last Modified: 27 May 2021, 6:12 p.m.
Panel Version: 2.190

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 5, OMIM:617731

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly.
Sources: Expert list
Created: 4 Sep 2020, 2:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galloway-Mowat syndrome 5, MIM# 617731

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Galloway-Mowat syndrome 5, OMIM:617731
OMIM
608680
Clinvar variants
Variants in TPRKB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 May 2021, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TPRKB were changed from Galloway-Mowat syndrome 5, MIM# 617731 to Galloway-Mowat syndrome 5, OMIM:617731

27 May 2021, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TPRKB were set to 28805828; 30053862

27 May 2021, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: tprkb has been classified as Red List (Low Evidence).

4 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TPRKB was added gene: TPRKB was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPRKB were set to 28805828; 30053862 Phenotypes for gene: TPRKB were set to Galloway-Mowat syndrome 5, MIM# 617731 Review for gene: TPRKB was set to GREEN gene: TPRKB was marked as current diagnostic