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Severe microcephaly

Gene: TPRKB

No list

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

1 review

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
Phenotypes
  • Galloway-Mowat syndrome 5, MIM# 617731
OMIM
608680
Clinvar variants
Variants in TPRKB
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: 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