Activity
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| Proteinuric renal disease v2.0 | TPRKB |
Eleanor Williams commented on gene: TPRKB: TPRKB is associated with Galloway-Mowat syndrome 5 #617731 (AR) in OMIM. PMID: 28805828 - Braun et al 2017 - screened the coding regions of OSGEP, TP53RK, TPRKB and LAGE3 in 907 individuals with early-onset nephrotic syndrome including 91 individuals with GAMOS. Identified 2 biallelic missense variants in TPRKB in 2 families with GAMOS (c.407T>C, p.Leu136Pro and c.446A>6, p.Tyr149Cys). Both sets of parents were heterozgous for the variant. Mouse embryos with knockout of Lage3, Osgep, or Tprkb reproduced the human microcephaly phenotype. No renal phenotype was observed in knockout mice or fish but they hypothesize that this is due to early lethality masking renal involvement that might occur in older animals. Functional studies also showed that knockout of these genes affect cell proliferation. PMID: 30053862 - Hyun et al 2018 - WES on a family with three GAMOS affected siblings found a homozygous missense mutation (NM_033550, c.194A > T, p.Lys65Met) in 2 siblings (3rd not tested). Parents and an unaffected sibling were heterzygous for the variant. All three patients manifested similar phenotypes, including very early-onset nephrotic syndrome, microcephaly, dysmorphic faces, and early fatality. Renal biopsy performed on one patient revealed focal segmental glomerulosclerosis with severe tubulo-interstitial changes. Summary: 3 familial cases. Some functional data. |
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| Proteinuric renal disease v1.27 | TP53RK | Eleanor Williams Phenotypes for gene: TP53RK were changed from to Galloway-Mowat syndrome 4 #617730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.26 | TP53RK | Eleanor Williams Publications for gene: TP53RK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.25 | TP53RK | Eleanor Williams Mode of inheritance for gene: TP53RK was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.24 | TP53RK | Eleanor Williams Classified gene: TP53RK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.24 | TP53RK | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as there are 3 unrelated families with variants in this gene with Galloway-Mowatt syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.24 | TP53RK | Eleanor Williams Gene: tp53rk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.23 | TP53RK |
Eleanor Williams commented on gene: TP53RK: TP53RK is associated with Galloway-Mowat syndrome 4 (617730) in OMIM. Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of Galloway-Mowat syndrome, and TP53RK should be included on the Proteinuric renal disease panel. PMID: 28805828 - Braun et al 2017 - 4 patients from 3 unrelated families with Galloway-Mowat syndrome-4. Compound heterozygous or homozygous variants (4 different variants) found in the TP53RK gene. Functional data suggests the variants impaired protein functionality. |
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| Proteinuric renal disease v1.16 | TP53RK | Eleanor Williams reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 28805828; Phenotypes: Galloway-Mowat syndrome 4 #617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | TP53RK |
Eleanor Williams gene: TP53RK was added gene: TP53RK was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: TP53RK was set to |
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