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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 v1.20 | LAGE3 | Eleanor Williams Phenotypes for gene: LAGE3 were changed from to Galloway-Mowat syndrome 2, X-linked #301006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.19 | LAGE3 | Eleanor Williams Publications for gene: LAGE3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.18 | LAGE3 | Eleanor Williams Mode of inheritance for gene: LAGE3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.17 | LAGE3 | Eleanor Williams Classified gene: LAGE3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.17 | LAGE3 | Eleanor Williams Added comment: Comment on list classification: Changing this gene from red to green as 3 unrelated cases of variants in this gene in patients with Galloway-Mowat syndrome have been reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.17 | LAGE3 | Eleanor Williams Gene: lage3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.16 | LAGE3 |
Eleanor Williams commented on gene: LAGE3: LAGE3 is associated with Galloway-Mowat syndrome 2, X-linked (#301006) 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 this condition, and LAGE3 should be included on the Proteinuric renal disease panel. PMID: 28805828 - Braun et al 2017 - hemizygous mutations in the LAGE3 gene were identified ion 4 male patients from 3 unrelated families with X-linked Galloway-Mowat syndrome-2. Three different variants (2 missense, one splice site). Patients with different ethnic backgrounds. |
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| Proteinuric renal disease v1.16 | LAGE3 | Eleanor Williams reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 28805828; Phenotypes: Galloway-Mowat syndrome 2, X-linked #301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | LAGE3 |
Eleanor Williams gene: LAGE3 was added gene: LAGE3 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: LAGE3 was set to |
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