Severe microcephaly
Gene: TPRKB
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 TPRKBCreated: 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
Three unrelated families reported with renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly.
Sources: Expert listCreated: 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
Phenotypes for gene: TPRKB were changed from Galloway-Mowat syndrome 5, MIM# 617731 to Galloway-Mowat syndrome 5, OMIM:617731
Publications for gene: TPRKB were set to 28805828; 30053862
Gene: tprkb has been classified as Red List (Low Evidence).
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