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Proteinuria v0.229 KAT2B Ain Roesley Marked gene: KAT2B as ready
Proteinuria v0.229 KAT2B Ain Roesley Gene: kat2b has been classified as Red List (Low Evidence).
Proteinuria v0.229 KAT2B Ain Roesley gene: KAT2B was added
gene: KAT2B was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: KAT2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KAT2B were set to 39366742
Phenotypes for gene: KAT2B were set to steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related
Review for gene: KAT2B was set to RED
gene: KAT2B was marked as current diagnostic
Added comment: 1 family with 2 affected siblings homozygous for an NMD-predicted variant

both have steroid-resistant nephrotic syndrome and bilateral cataract
only 1 has FSGS
Sources: Literature
Proteinuria v0.228 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from RENI syndrome (MIM#617575) to RENI syndrome (MIM#617575)
Proteinuria v0.228 SGPL1 Ain Roesley Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14, MIM# 617575 to RENI syndrome (MIM#617575)
Proteinuria v0.227 WT1 Zornitza Stark Marked gene: WT1 as ready
Proteinuria v0.227 WT1 Zornitza Stark Gene: wt1 has been classified as Green List (High Evidence).
Proteinuria v0.227 WT1 Zornitza Stark Phenotypes for gene: WT1 were changed from to Denys-Drash syndrome, MIM# 194080; Frasier syndrome, MIM#136680; Wilms tumor, type 1, MIM#194070; Nephrotic syndrome, type 4, MIM#256370
Proteinuria v0.226 WT1 Zornitza Stark Mode of inheritance for gene: WT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.225 SCARB2 Bryony Thompson Marked gene: SCARB2 as ready
Proteinuria v0.225 SCARB2 Bryony Thompson Gene: scarb2 has been classified as Green List (High Evidence).
Proteinuria v0.225 SCARB2 Bryony Thompson Phenotypes for gene: SCARB2 were changed from to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900
Proteinuria v0.224 SCARB2 Bryony Thompson Publications for gene: SCARB2 were set to
Proteinuria v0.223 SCARB2 Bryony Thompson Mode of inheritance for gene: SCARB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.222 NUP160 Zornitza Stark Classified gene: NUP160 as Green List (high evidence)
Proteinuria v0.222 NUP160 Zornitza Stark Gene: nup160 has been classified as Green List (High Evidence).
Proteinuria v0.221 NUP160 Zornitza Stark Deleted their comment
Proteinuria v0.221 NUP160 Zornitza Stark edited their review of gene: NUP160: Changed rating: GREEN
Proteinuria v0.221 NUP160 Zornitza Stark commented on gene: NUP160: PMID: 30910934 1 x patient with familial steroid-resistant nephrotic syndrome (SRNS) and FSGS carried novel compound-heterozygous variants in NUP160 (R1173X and E803K).

Silencing of Drosophila NUP160 specifically in nephrocytes (fly renal cells) led to functional abnormalities, reduced cell size and nuclear volume, and disorganized nuclear membrane structure. These defects were completely rescued by the expression of the wild-type human NUP160 gene in nephrocytes.

PMID: 30179222 1 x family (2 sibs) with compound het variants E803K and Arg910X. 1 Sib had SRNS and FSGS, the other had proteinuria.

PMID: 33456446 1 x family (2 sibs) with SRNS and chronic kidney disease. Homozygous for NUP160 c.1179+5G>A, confirmed by RT-PCR to cause abnormal splicing [r.1102_1179del;p.(Phe368_Gln393del)]. These individuals also had additional neurological features of intellectual disability and epilepsy.

PMID: 38224683 Generated a podocyte-specific Nup160 knockout (Nup160podKO) mouse model using CRISPR/Cas9 and Cre/loxP technologies. They showed that Nup160podKO mice develop typical signs of NS.
Proteinuria v0.221 NUP160 Zornitza Stark edited their review of gene: NUP160: Added comment: PMID: 30910934 1 x patient with familial steroid-resistant nephrotic syndrome (SRNS) and FSGS carried novel compound-heterozygous variants in NUP160 (R1173X and E803K).

Silencing of Drosophila NUP160 specifically in nephrocytes (fly renal cells) led to functional abnormalities, reduced cell size and nuclear volume, and disorganized nuclear membrane structure. These defects were completely rescued by the expression of the wild-type human NUP160 gene in nephrocytes.

PMID: 30179222 1 x family (2 sibs) with compound het variants E803K and Arg910X. 1 Sib had SRNS and FSGS, the other had proteinuria.

PMID: 33456446 1 x family (2 sibs) with SRNS and chronic kidney disease. Homozygous for NUP160 c.1179+5G>A, confirmed by RT-PCR to cause abnormal splicing [r.1102_1179del;p.(Phe368_Gln393del)]. These individuals also had additional neurological features of intellectual disability and epilepsy.

PMID: 38224683 Generated a podocyte-specific Nup160 knockout (Nup160podKO) mouse model using CRISPR/Cas9 and Cre/loxP technologies. They showed that Nup160podKO mice develop typical signs of NS.; Changed publications: 30910934, 30179222, 33456446, 38224683
Proteinuria v0.221 ARHGAP24 Zornitza Stark Phenotypes for gene: ARHGAP24 were changed from FSGS to FSGS, MONDO:0005363, ARHGAP24-related
Proteinuria v0.220 ARHGAP24 Zornitza Stark edited their review of gene: ARHGAP24: Changed phenotypes: FSGS, MONDO:0005363, ARHGAP24-related
Proteinuria v0.220 CD2AP Bryony Thompson Phenotypes for gene: CD2AP were changed from focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917 to focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917
Proteinuria v0.219 CD2AP Bryony Thompson Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3, OMIM #607832 to focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917
Proteinuria v0.218 CD2AP Bryony Thompson Publications for gene: CD2AP were set to 30612599; 17713465
Proteinuria v0.217 CD2AP Bryony Thompson Mode of inheritance for gene: CD2AP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Proteinuria v0.216 CD2AP Bryony Thompson Classified gene: CD2AP as Green List (high evidence)
Proteinuria v0.216 CD2AP Bryony Thompson Added comment: Comment on list classification: Comment on list classification: Definitive gene-disease assessment by ClinGen Glomerulopathy GCEP - classified 13/12/2021
Proteinuria v0.216 CD2AP Bryony Thompson Gene: cd2ap has been classified as Green List (High Evidence).
Proteinuria v0.215 GLA Ain Roesley Phenotypes for gene: GLA were changed from Fairy disease, MIM# 301500 to Fabry disease, MIM# 301500
Proteinuria v0.214 WT1 Chirag Patel reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: None; Publications: Denys-Drash syndrome, MIM# 194080, Frasier syndrome, MIM#136680, Wilms tumor, type 1, MIM#194070, Nephrotic syndrome, type 4, MIM#256370; Phenotypes: Denys-Drash syndrome, MIM# 194080, Frasier syndrome, MIM#136680, Wilms tumor, type 1, MIM#194070, Nephrotic syndrome, type 4, MIM#256370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.213 Zornitza Stark List of related panels changed from to Proteinuria HP:0000093
Proteinuria v0.212 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Proteinuria v0.212 LAMA5 Zornitza Stark Phenotypes for gene: LAMA5 were changed from Nephrotic syndrome to Nephrotic syndrome, type 26 620049
Proteinuria v0.211 LAMA5 Zornitza Stark Classified gene: LAMA5 as Green List (high evidence)
Proteinuria v0.211 LAMA5 Zornitza Stark Gene: lama5 has been classified as Green List (High Evidence).
Proteinuria v0.210 LAMA5 Zornitza Stark reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 26 620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.210 LAMA5 Belinda Chong reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534211, 16790509, 29764427, 30808327, 24130771, 35419533; Phenotypes: Nephrotic syndrome, Alport syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuria v0.210 MEFV Zornitza Stark Marked gene: MEFV as ready
Proteinuria v0.210 MEFV Zornitza Stark Gene: mefv has been classified as Amber List (Moderate Evidence).
Proteinuria v0.210 MEFV Elena Savva Classified gene: MEFV as Amber List (moderate evidence)
Proteinuria v0.210 MEFV Elena Savva Gene: mefv has been classified as Amber List (Moderate Evidence).
Proteinuria v0.209 MEFV Elena Savva gene: MEFV was added
gene: MEFV was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEFV were set to PMID: 27956278
Phenotypes for gene: MEFV were set to Familial Mediterranean fever MIM#134610; Familial Mediterranean fever MIM#249100; Neutrophilic dermatosis, acute febrile MIM#608068
Mode of pathogenicity for gene: MEFV was set to Other
Review for gene: MEFV was set to AMBER
Added comment: PMID: 27956278 - p.Met694Ile single variant in the homozygous state has been reported as enriched within individuals with renal amyloidosis and FMF.
Sources: Literature
Proteinuria v0.208 APOL1 Bryony Thompson Mode of inheritance for gene: APOL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.207 APOL1 Bryony Thompson Mode of pathogenicity for gene: APOL1 was changed from to Other
Proteinuria v0.206 APOL1 Bryony Thompson Publications for gene: APOL1 were set to 20647424; 24206458; 20635188
Proteinuria v0.205 APOL1 Bryony Thompson Classified gene: APOL1 as Amber List (moderate evidence)
Proteinuria v0.205 APOL1 Bryony Thompson Added comment: Comment on list classification: Assigning amber status, because this is a susceptibility allele
Proteinuria v0.205 APOL1 Bryony Thompson Gene: apol1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.204 APOL1 Bryony Thompson reviewed gene: APOL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20647424, 25993319, 34350953; Phenotypes: focal segmental glomerulosclerosis 4, susceptibility to MONDO:0012931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.204 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Proteinuria v0.204 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Proteinuria v0.204 LRP2 Chirag Patel Classified gene: LRP2 as Green List (high evidence)
Proteinuria v0.204 LRP2 Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence).
Proteinuria v0.203 LRP2 Chirag Patel Classified gene: LRP2 as Green List (high evidence)
Proteinuria v0.203 LRP2 Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence).
Proteinuria v0.203 LRP2 Chirag Patel Classified gene: LRP2 as Green List (high evidence)
Proteinuria v0.203 LRP2 Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence).
Proteinuria v0.202 LRP2 Chirag Patel gene: LRP2 was added
gene: LRP2 was added to Proteinuria. Sources: Expert list
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP2 were set to PMID: 17632512
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448
Review for gene: LRP2 was set to GREEN
Added comment: Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, agenesis of the corpus callosum and proteinuria, and sensorineural deafness.

Kantarci et al. (2007) identified biallelic LRP2 mutations in 6 families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.
Sources: Expert list
Proteinuria v0.201 MAGI2 Zornitza Stark Publications for gene: MAGI2 were set to 27932480; 25271328; 25108225
Proteinuria v0.200 MAGI2 Zornitza Stark changed review comment from: 3 individuals from two unrelated families reported; mouse model recapitulates phenotype.; to: Four families and extensive functional data, including two mouse and one zebrafish model.
Proteinuria v0.200 MAGI2 Zornitza Stark edited their review of gene: MAGI2: Changed publications: 27932480, 25108225, 25271328, 31171376, 31010479
Proteinuria v0.200 MYO1E Zornitza Stark Marked gene: MYO1E as ready
Proteinuria v0.200 MYO1E Zornitza Stark Gene: myo1e has been classified as Green List (High Evidence).
Proteinuria v0.200 MYO1E Zornitza Stark Phenotypes for gene: MYO1E were changed from to Glomerulosclerosis, focal segmental, 6, MIM# 614131
Proteinuria v0.199 MYO1E Zornitza Stark Publications for gene: MYO1E were set to
Proteinuria v0.198 MYO1E Zornitza Stark Mode of inheritance for gene: MYO1E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.197 MYO1E Zornitza Stark reviewed gene: MYO1E: Rating: GREEN; Mode of pathogenicity: None; Publications: 21756023, 31520189, 25739341, 23977349; Phenotypes: Glomerulosclerosis, focal segmental, 6, MIM# 614131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.197 DGKE Zornitza Stark Marked gene: DGKE as ready
Proteinuria v0.197 DGKE Zornitza Stark Gene: dgke has been classified as Green List (High Evidence).
Proteinuria v0.197 DGKE Zornitza Stark Phenotypes for gene: DGKE were changed from to Nephrotic syndrome, type 7, MIM# 615008
Proteinuria v0.196 DGKE Zornitza Stark Publications for gene: DGKE were set to
Proteinuria v0.195 DGKE Zornitza Stark Mode of inheritance for gene: DGKE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.194 DGKE Zornitza Stark reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23274426, 23542698; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.194 P3H2 Zornitza Stark Marked gene: P3H2 as ready
Proteinuria v0.194 P3H2 Zornitza Stark Gene: p3h2 has been classified as Green List (High Evidence).
Proteinuria v0.194 P3H2 Zornitza Stark Classified gene: P3H2 as Green List (high evidence)
Proteinuria v0.194 P3H2 Zornitza Stark Gene: p3h2 has been classified as Green List (High Evidence).
Proteinuria v0.193 P3H2 Daniel Flanagan gene: P3H2 was added
gene: P3H2 was added to Proteinuria. Sources: Expert list
Mode of inheritance for gene: P3H2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P3H2 were set to 35499085
Phenotypes for gene: P3H2 were set to Myopia, high, with cataract and vitreoretinal degeneration (MIM# 614292); Proteinuria, P3H2-related MONDO:0003634
Review for gene: P3H2 was set to GREEN
Added comment: Candidate gene for albuminuria. Three families reported with homozygous P3H2 variants who have ocular abnormalities and albuminuria. Segregation with microalbuminuria and microhematuria in four affected siblings. Knockout mice initially have a TBMN phenotype that slowly progresses to a FSGS phenotype.
Sources: Expert list
Proteinuria v0.193 PLCE1 Zornitza Stark Marked gene: PLCE1 as ready
Proteinuria v0.193 PLCE1 Zornitza Stark Gene: plce1 has been classified as Green List (High Evidence).
Proteinuria v0.193 PLCE1 Zornitza Stark Phenotypes for gene: PLCE1 were changed from to Nephrotic syndrome, type 3, MIM# 610725
Proteinuria v0.192 PLCE1 Zornitza Stark Publications for gene: PLCE1 were set to
Proteinuria v0.191 PLCE1 Zornitza Stark Mode of inheritance for gene: PLCE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.190 PLCE1 Zornitza Stark reviewed gene: PLCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17086182, 18065803, 20591883; Phenotypes: Nephrotic syndrome, type 3, MIM# 610725; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.190 PTPRO Zornitza Stark Marked gene: PTPRO as ready
Proteinuria v0.190 PTPRO Zornitza Stark Gene: ptpro has been classified as Green List (High Evidence).
Proteinuria v0.190 PTPRO Zornitza Stark Phenotypes for gene: PTPRO were changed from to Nephrotic syndrome, type 6, MIM# 614196
Proteinuria v0.189 PTPRO Zornitza Stark Publications for gene: PTPRO were set to
Proteinuria v0.188 PTPRO Zornitza Stark Mode of inheritance for gene: PTPRO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.187 PTPRO Zornitza Stark reviewed gene: PTPRO: Rating: GREEN; Mode of pathogenicity: None; Publications: 21722858, 34546508, 30065916; Phenotypes: Nephrotic syndrome, type 6, MIM# 614196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.187 TRPC6 Zornitza Stark Marked gene: TRPC6 as ready
Proteinuria v0.187 TRPC6 Zornitza Stark Gene: trpc6 has been classified as Green List (High Evidence).
Proteinuria v0.187 TRPC6 Zornitza Stark Phenotypes for gene: TRPC6 were changed from to Glomerulosclerosis, focal segmental, 2, MIM# 603965
Proteinuria v0.186 TRPC6 Zornitza Stark Publications for gene: TRPC6 were set to 15879175; 15924139; 34387384; 33918778; 32509715
Proteinuria v0.186 TRPC6 Zornitza Stark Publications for gene: TRPC6 were set to
Proteinuria v0.185 TRPC6 Zornitza Stark Mode of inheritance for gene: TRPC6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.184 TRPC6 Zornitza Stark reviewed gene: TRPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15879175, 15924139, 34387384, 33918778, 32509715; Phenotypes: Glomerulosclerosis, focal segmental, 2, MIM# 603965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.184 TTC21B Zornitza Stark changed review comment from: No specific link to proteinuria identified.; to: No specific link between nephronophthisis and proteinuria identified.
Proteinuria v0.184 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from Nephronophthisis 12, MIM#613820 to Glomerular disorder (MONDO:0019722), TTC21B-related
Proteinuria v0.183 TTC21B Zornitza Stark Publications for gene: TTC21B were set to
Proteinuria v0.182 TTC21B Zornitza Stark Classified gene: TTC21B as Green List (high evidence)
Proteinuria v0.182 TTC21B Zornitza Stark Gene: ttc21b has been classified as Green List (High Evidence).
Proteinuria v0.181 TTC21B Dean Phelan reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35289079, 26940125, 28124483, 31208513, 34805047; Phenotypes: Glomerular disorder (MONDO:0019722), TTC21B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.181 EMP2 Bryony Thompson Marked gene: EMP2 as ready
Proteinuria v0.181 EMP2 Bryony Thompson Gene: emp2 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.181 EMP2 Bryony Thompson Phenotypes for gene: EMP2 were changed from to nephrotic syndrome, type 10 MONDO:0014373
Proteinuria v0.180 EMP2 Bryony Thompson Publications for gene: EMP2 were set to
Proteinuria v0.179 EMP2 Bryony Thompson Mode of inheritance for gene: EMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.178 EMP2 Bryony Thompson Classified gene: EMP2 as Amber List (moderate evidence)
Proteinuria v0.178 EMP2 Bryony Thompson Gene: emp2 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.177 EMP2 Bryony Thompson reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24814193, 31508419; Phenotypes: nephrotic syndrome, type 10 MONDO:0014373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.177 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Proteinuria v0.177 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence).
Proteinuria v0.177 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199
Proteinuria v0.176 LAMB2 Zornitza Stark Publications for gene: LAMB2 were set to
Proteinuria v0.175 LAMB2 Zornitza Stark Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.174 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14136829, 15372515, 17256789; Phenotypes: Pierson syndrome, MIM# 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.174 EHD1 Zornitza Stark Marked gene: EHD1 as ready
Proteinuria v0.174 EHD1 Zornitza Stark Gene: ehd1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.174 EHD1 Zornitza Stark Classified gene: EHD1 as Amber List (moderate evidence)
Proteinuria v0.174 EHD1 Zornitza Stark Gene: ehd1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.173 EHD1 Zornitza Stark Marked gene: EHD1 as ready
Proteinuria v0.173 EHD1 Zornitza Stark Gene: ehd1 has been classified as Red List (Low Evidence).
Proteinuria v0.173 EHD1 Zornitza Stark gene: EHD1 was added
gene: EHD1 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: EHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EHD1 were set to 35149593
Phenotypes for gene: EHD1 were set to Inherited renal tubular disease, MONDO:0015962, EHD1-related
Review for gene: EHD1 was set to AMBER
Added comment: Six individuals (5-33 years) with proteinuria and a high-frequency hearing deficit reported with the homozygous missense variant c.1192C>T (p.R398W) in EHD1. Proteinuria (0.7-2.1 g/d) consisted predominantly of low molecular weight proteins, reflecting impaired renal proximal tubular endocytosis of filtered proteins. Ehd1 knockout and Ehd1R398W/R398W knockin mice also showed a high-frequency hearing deficit and impaired receptor-mediated endocytosis in proximal tubules, and a zebrafish model showed impaired ability to reabsorb low molecular weight dextran.

Single founder variant but two animal models, hence Amber
Sources: Literature
Proteinuria v0.172 ITSN1 Zornitza Stark Phenotypes for gene: ITSN1 were changed from Early childhood SSNS to Nephrotic syndrome
Proteinuria v0.171 GON7 Zornitza Stark Phenotypes for gene: GON7 were changed from Galloway-Mowat syndrome to Galloway-Mowat syndrome 9, MIM# 619603
Proteinuria v0.170 GON7 Zornitza Stark edited their review of gene: GON7: Changed phenotypes: Galloway-Mowat syndrome 9, MIM# 619603
Proteinuria v0.170 TRIM8 Zornitza Stark Phenotypes for gene: TRIM8 were changed from intellectual disability; epileptic encephalopathy; nephrotic syndrome; proteinuria to Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428; Intellectual disability; Seizures; nephrotic syndrome; proteinuria
Proteinuria v0.169 TRIM8 Zornitza Stark reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428, Intellectual disability, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.169 SPRY2 Bryony Thompson Marked gene: SPRY2 as ready
Proteinuria v0.169 SPRY2 Bryony Thompson Gene: spry2 has been classified as Red List (Low Evidence).
Proteinuria v0.169 SPRY2 Bryony Thompson changed review comment from: A single family reported with expression analyses conducted in some patient cells.
Sources: Literature; to: A single family reported with expression analyses conducted in some patient cells. No variants identified in 70 apparently sporadic cases with IgAN.
Sources: Literature
Proteinuria v0.169 SPRY2 Bryony Thompson gene: SPRY2 was added
gene: SPRY2 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: SPRY2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPRY2 were set to 25782674
Phenotypes for gene: SPRY2 were set to {?IgA nephropathy, susceptibility to, 3} MIM#616818
Review for gene: SPRY2 was set to RED
Added comment: A single family reported with expression analyses conducted in some patient cells.
Sources: Literature
Proteinuria v0.168 LAMA5 Zornitza Stark Publications for gene: LAMA5 were set to 29534211
Proteinuria v0.167 LAMA5 Bryony Thompson edited their review of gene: LAMA5: Changed publications: 29534211, 16790509, 29764427, 30808327, 24130771
Proteinuria v0.167 LAMA5 Bryony Thompson changed review comment from: Three consanguineous families with homozygous missense variants (VUS) identified in two affected siblings with paediatric nephrotic syndrome within each family. No functional studies conducted on the missense variants. A hypomorphic Lama5 homozygous mouse model demonstrated proteinuria, cystic kidney disease and death from progressive renal failure at 3–4 weeks of age.; to: PMID: 29534211 - Three consanguineous families with homozygous missense variants (VUS) identified in two affected siblings with paediatric nephrotic syndrome within each family. No functional studies conducted on the missense variants.
PMID: 16790509 - A hypomorphic Lama5 homozygous mouse model demonstrated proteinuria, cystic kidney disease and death from progressive renal failure at 3–4 weeks of age.
PMID: 24130771 - a single case focal segmental glomerulosclerosis (proteinuria) with biallelic missense variants (VUS - S1469A & V2440I). Also reports p.Gly3685Arg in 2 other cases, which has 11 homozygotes in gnomAD v2.1
PMID: 29764427, 30808327 - Four families with haematuria and proteinuria reported with digenic inheritance of a LAMA5 missense variant with a COL4A4/5 variant. One of those variants (p.His1717Tyr) has 892 homozygotes in gnomAD v2.1
Proteinuria v0.167 LAMA5 Bryony Thompson edited their review of gene: LAMA5: Changed publications: 29534211, 16790509, 29764427, 30808327; Changed phenotypes: Nephrotic syndrome, Alport syndrome; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.167 LAMA5 Bryony Thompson reviewed gene: LAMA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 29534211, 16790509; Phenotypes: Nephrotic syndrome; Mode of inheritance: None
Proteinuria v0.167 RCAN1 Zornitza Stark Marked gene: RCAN1 as ready
Proteinuria v0.167 RCAN1 Zornitza Stark Gene: rcan1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.167 RCAN1 Zornitza Stark Classified gene: RCAN1 as Amber List (moderate evidence)
Proteinuria v0.167 RCAN1 Zornitza Stark Gene: rcan1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.166 RCAN1 Zornitza Stark gene: RCAN1 was added
gene: RCAN1 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: RCAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RCAN1 were set to 33863784
Phenotypes for gene: RCAN1 were set to FSGS; proteinuria
Review for gene: RCAN1 was set to AMBER
Added comment: Two families reported, some functional data.
Sources: Literature
Proteinuria v0.165 INF2 Zornitza Stark Marked gene: INF2 as ready
Proteinuria v0.165 INF2 Zornitza Stark Gene: inf2 has been classified as Green List (High Evidence).
Proteinuria v0.165 INF2 Zornitza Stark Phenotypes for gene: INF2 were changed from to Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455; Glomerulosclerosis, focal segmental, 5, MIM# 613237
Proteinuria v0.164 INF2 Zornitza Stark Publications for gene: INF2 were set to
Proteinuria v0.163 INF2 Zornitza Stark Mode of inheritance for gene: INF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.162 INF2 Zornitza Stark reviewed gene: INF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22187985, 30680856, 25943269, 20023659; Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455, Glomerulosclerosis, focal segmental, 5, MIM# 613237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.162 PRDM15 Zornitza Stark Marked gene: PRDM15 as ready
Proteinuria v0.162 PRDM15 Zornitza Stark Gene: prdm15 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.162 PRDM15 Zornitza Stark Classified gene: PRDM15 as Amber List (moderate evidence)
Proteinuria v0.162 PRDM15 Zornitza Stark Gene: prdm15 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.161 PRDM15 Zornitza Stark gene: PRDM15 was added
gene: PRDM15 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM15 were set to 31950080
Phenotypes for gene: PRDM15 were set to Steroid resistant nephrotic syndrome
Review for gene: PRDM15 was set to AMBER
Added comment: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic SRNS including HPE, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data focused on the brain phenotype.

Two additional homozygous missense identified with isolated SRNS.
Sources: Literature
Proteinuria v0.160 DAAM2 Zornitza Stark Phenotypes for gene: DAAM2 were changed from steroid-resistant nephrotic syndrome (SRNS) to Nephrotic syndrome, type 24, MIM# 619263; steroid-resistant nephrotic syndrome (SRNS)
Proteinuria v0.159 DAAM2 Zornitza Stark reviewed gene: DAAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 24, MIM# 619263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.159 FAT1 Ee Ming Wong changed review comment from: - Four affected individuals who are homozygous or compound heterozgous carriers of a FAN1 variant
- Fibroblasts from a homozygous FAN1 carriers demonstrated loss of FAN1 protein and decreased cell migration rate compared to WT control cells.
- Fat1 knockdown in renal tubular cells reduces migration and results in defective lumen formation. Knockdown of fat1 in zebrafish results in pronephric cysts.; to: - Four affected individuals who are homozygous or compound heterozgous carriers of a FAT1 variant
- Fibroblasts from a homozygous FAT1 carriers demonstrated loss of FAN1 protein and decreased cell migration rate compared to WT control cells.
- Fat1 knockdown in renal tubular cells reduces migration and results in defective lumen formation. Knockdown of fat1 in zebrafish results in pronephric cysts.
Proteinuria v0.159 CRB2 Zornitza Stark Marked gene: CRB2 as ready
Proteinuria v0.159 CRB2 Zornitza Stark Gene: crb2 has been classified as Green List (High Evidence).
Proteinuria v0.159 CRB2 Zornitza Stark Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease, MIM# 219730
Proteinuria v0.158 CRB2 Zornitza Stark Publications for gene: CRB2 were set to
Proteinuria v0.157 CRB2 Zornitza Stark Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.156 CRB2 Zornitza Stark reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.156 KIRREL1 Zornitza Stark Phenotypes for gene: KIRREL1 were changed from Steroid-resistant nephrotic syndrome to Nephrotic syndrome, type 23, MIM# 619201
Proteinuria v0.155 KIRREL1 Zornitza Stark edited their review of gene: KIRREL1: Changed phenotypes: Nephrotic syndrome, type 23, MIM# 619201
Proteinuria v0.155 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Proteinuria v0.155 ITGA3 Zornitza Stark Gene: itga3 has been classified as Green List (High Evidence).
Proteinuria v0.155 ITGA3 Zornitza Stark Phenotypes for gene: ITGA3 were changed from to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748
Proteinuria v0.154 ITGA3 Zornitza Stark Publications for gene: ITGA3 were set to
Proteinuria v0.153 ITGA3 Zornitza Stark Mode of inheritance for gene: ITGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.152 ITGA3 Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.152 NOS1AP Zornitza Stark Marked gene: NOS1AP as ready
Proteinuria v0.152 NOS1AP Zornitza Stark Gene: nos1ap has been classified as Green List (High Evidence).
Proteinuria v0.152 NOS1AP Zornitza Stark Classified gene: NOS1AP as Green List (high evidence)
Proteinuria v0.152 NOS1AP Zornitza Stark Gene: nos1ap has been classified as Green List (High Evidence).
Proteinuria v0.151 NOS1AP Zornitza Stark gene: NOS1AP was added
gene: NOS1AP was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: NOS1AP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NOS1AP were set to Nephrotic syndrome, type 22, MIM# 619155
Review for gene: NOS1AP was set to GREEN
Added comment: Nephrotic syndrome type 22 (NPHS22) is an autosomal recessive renal disease characterized by onset of progressive kidney dysfunction in infancy. Affected individuals usually present with edema associated with hypoproteinemia, proteinuria, and microscopic hematuria. Renal biopsy shows effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane. The disease is steroid-resistant and progressive, resulting in end-stage renal disease usually necessitating kidney transplant. Two unrelated families and animal model.

No PMID yet: https://advances.sciencemag.org/content/7/1/eabe1386
Sources: Literature
Proteinuria v0.150 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Proteinuria v0.149 LMX1B Zornitza Stark edited their review of gene: LMX1B: Changed phenotypes: Nail-patella syndrome (MIM#161200), MONDO:0008061, LMX1B-related nephropathy, Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020
Proteinuria v0.149 DAAM2 Zornitza Stark Marked gene: DAAM2 as ready
Proteinuria v0.149 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Proteinuria v0.149 DAAM2 Zornitza Stark Marked gene: DAAM2 as ready
Proteinuria v0.149 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Proteinuria v0.149 DAAM2 Zornitza Stark Classified gene: DAAM2 as Green List (high evidence)
Proteinuria v0.149 DAAM2 Zornitza Stark Gene: daam2 has been classified as Green List (High Evidence).
Proteinuria v0.148 DAAM2 Ain Roesley gene: DAAM2 was added
gene: DAAM2 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: DAAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAAM2 were set to 33232676
Phenotypes for gene: DAAM2 were set to steroid-resistant nephrotic syndrome (SRNS)
Penetrance for gene: DAAM2 were set to unknown
Review for gene: DAAM2 was set to GREEN
Added comment: - steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis on histologic analysis of kidney biopsies and foot process effacement shown by electron microscopy (authors have suggested the term nephrotic syndrome type 22 (NPHS22))
- 4 unrelated families, 3 of which were consanguineous
- 4 unique missense and 1 stop
- in vitro studies done for the missense variants
Sources: Literature
Proteinuria v0.148 NPHS2 Zornitza Stark Marked gene: NPHS2 as ready
Proteinuria v0.148 NPHS2 Zornitza Stark Gene: nphs2 has been classified as Green List (High Evidence).
Proteinuria v0.148 NPHS2 Zornitza Stark Phenotypes for gene: NPHS2 were changed from to Nephrotic syndrome, type 2 (MIM#600995), AR
Proteinuria v0.147 NPHS2 Zornitza Stark Publications for gene: NPHS2 were set to
Proteinuria v0.146 NPHS2 Zornitza Stark Mode of inheritance for gene: NPHS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.145 NPHS2 Zornitza Stark reviewed gene: NPHS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32467597, 30260545, 24509478; Phenotypes: Nephrotic syndrome, type 2 (MIM#600995), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.145 LMX1B Zornitza Stark Marked gene: LMX1B as ready
Proteinuria v0.145 LMX1B Zornitza Stark Gene: lmx1b has been classified as Green List (High Evidence).
Proteinuria v0.145 LMX1B Zornitza Stark Phenotypes for gene: LMX1B were changed from to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy
Proteinuria v0.144 LMX1B Zornitza Stark Publications for gene: LMX1B were set to
Proteinuria v0.143 LMX1B Zornitza Stark Mode of inheritance for gene: LMX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.142 LMX1B Zornitza Stark reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27450397, 32457516; Phenotypes: Nail-patella syndrome (MIM#161200), MONDO:0008061, LMX1B-related nephropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.142 KIRREL1 Zornitza Stark Marked gene: KIRREL1 as ready
Proteinuria v0.142 KIRREL1 Zornitza Stark Gene: kirrel1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.142 KIRREL1 Zornitza Stark Classified gene: KIRREL1 as Amber List (moderate evidence)
Proteinuria v0.142 KIRREL1 Zornitza Stark Gene: kirrel1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.141 KIRREL1 Zornitza Stark gene: KIRREL1 was added
gene: KIRREL1 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: KIRREL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIRREL1 were set to 31472902
Phenotypes for gene: KIRREL1 were set to Steroid-resistant nephrotic syndrome
Review for gene: KIRREL1 was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants and limited functional data.
Sources: Literature
Proteinuria v0.140 ITSN2 Zornitza Stark Marked gene: ITSN2 as ready
Proteinuria v0.140 ITSN2 Zornitza Stark Gene: itsn2 has been classified as Green List (High Evidence).
Proteinuria v0.140 ITSN2 Zornitza Stark Classified gene: ITSN2 as Green List (high evidence)
Proteinuria v0.140 ITSN2 Zornitza Stark Gene: itsn2 has been classified as Green List (High Evidence).
Proteinuria v0.139 ITSN2 Elena Savva gene: ITSN2 was added
gene: ITSN2 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: ITSN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITSN2 were set to PMID: 29773874
Phenotypes for gene: ITSN2 were set to Nephrotic syndrome
Review for gene: ITSN2 was set to GREEN
Added comment: PMID: 29773874: 2 families (3 patients) with homozygous missense or chet missense/PTC + null mice recapitulating the human phenotype.
Functional analysis of all variants shows an inability for Cdc42 activation as shown by wildtype overexpression
Sources: Literature
Proteinuria v0.139 IL1RAP Zornitza Stark Marked gene: IL1RAP as ready
Proteinuria v0.139 IL1RAP Zornitza Stark Gene: il1rap has been classified as Red List (Low Evidence).
Proteinuria v0.139 IL1RAP Zornitza Stark gene: IL1RAP was added
gene: IL1RAP was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: IL1RAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL1RAP were set to 31954058
Phenotypes for gene: IL1RAP were set to Steroid-sensitive nephrotic syndrome
Review for gene: IL1RAP was set to RED
Added comment: A pair of siblings with compound heterozygous variants in this gene and steroid-sensitive nephrotic syndrome. Functional effect of variants demonstrated but mouse model does not have proteinuria.
Sources: Literature
Proteinuria v0.138 FAT1 Zornitza Stark Publications for gene: FAT1 were set to 30862798; 26905694
Proteinuria v0.137 FAT1 Zornitza Stark changed review comment from: Another 5 families reported.; to: Another 5 families reported with syndromic proteinuria.
Proteinuria v0.137 FAT1 Zornitza Stark edited their review of gene: FAT1: Added comment: PMID 32902815: bi-allelic variants in association with proteinuria and no syndromic features reported.; Changed publications: 30862798, 32902815
Proteinuria v0.137 MAFB Zornitza Stark Marked gene: MAFB as ready
Proteinuria v0.137 MAFB Zornitza Stark Gene: mafb has been classified as Green List (High Evidence).
Proteinuria v0.137 MAFB Chirag Patel Classified gene: MAFB as Green List (high evidence)
Proteinuria v0.137 MAFB Chirag Patel Gene: mafb has been classified as Green List (High Evidence).
Proteinuria v0.137 MAFB Chirag Patel Classified gene: MAFB as Green List (high evidence)
Proteinuria v0.137 MAFB Chirag Patel Gene: mafb has been classified as Green List (High Evidence).
Proteinuria v0.137 MAFB Chirag Patel Classified gene: MAFB as Green List (high evidence)
Proteinuria v0.137 MAFB Chirag Patel Gene: mafb has been classified as Green List (High Evidence).
Proteinuria v0.136 MAFB Chirag Patel gene: MAFB was added
gene: MAFB was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAFB were set to PMID: 30208859; 29396697; 23956186
Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome, OMIM#166300
Review for gene: MAFB was set to GREEN
gene: MAFB was marked as current diagnostic
Added comment: Renal disease is documented in multiple patients with this skeletal dysplasia (MCTO). Mostly presenting with proteinuria, FSGS on biopsy, and progressive renal failure.
Sources: Literature
Proteinuria v0.135 COL4A5 Zornitza Stark Marked gene: COL4A5 as ready
Proteinuria v0.135 COL4A5 Zornitza Stark Gene: col4a5 has been classified as Green List (High Evidence).
Proteinuria v0.135 COL4A5 Zornitza Stark Phenotypes for gene: COL4A5 were changed from to Alport syndrome 1, X-linked, MIM# 301050
Proteinuria v0.134 COL4A5 Zornitza Stark Mode of inheritance for gene: COL4A5 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuria v0.133 COL4A5 Zornitza Stark reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuria v0.133 TP53RK Zornitza Stark Marked gene: TP53RK as ready
Proteinuria v0.133 TP53RK Zornitza Stark Gene: tp53rk has been classified as Green List (High Evidence).
Proteinuria v0.133 TP53RK Zornitza Stark Phenotypes for gene: TP53RK were changed from to Galloway-Mowat syndrome 4, MIM# 617730
Proteinuria v0.132 TP53RK Zornitza Stark Publications for gene: TP53RK were set to
Proteinuria v0.131 TP53RK Zornitza Stark Mode of inheritance for gene: TP53RK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.130 TP53RK Zornitza Stark reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 4, MIM# 617730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.130 GON7 Zornitza Stark Tag founder tag was added to gene: GON7.
Proteinuria v0.130 YRDC Zornitza Stark Marked gene: YRDC as ready
Proteinuria v0.130 YRDC Zornitza Stark Gene: yrdc has been classified as Green List (High Evidence).
Proteinuria v0.130 YRDC Zornitza Stark Classified gene: YRDC as Green List (high evidence)
Proteinuria v0.130 YRDC Zornitza Stark Gene: yrdc has been classified as Green List (High Evidence).
Proteinuria v0.129 YRDC Zornitza Stark gene: YRDC was added
gene: YRDC was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YRDC were set to 31481669
Phenotypes for gene: YRDC were set to Galloway-Mowat syndrome
Review for gene: YRDC was set to GREEN
Added comment: Three individuals from two unrelated families with typical features of Galloway-Mowat syndrome including proteinuria, microcephaly, developmental delay and brain malformations. Supportive functional data.
Sources: Literature
Proteinuria v0.128 GON7 Zornitza Stark Marked gene: GON7 as ready
Proteinuria v0.128 GON7 Zornitza Stark Gene: gon7 has been classified as Green List (High Evidence).
Proteinuria v0.128 GON7 Zornitza Stark Classified gene: GON7 as Green List (high evidence)
Proteinuria v0.128 GON7 Zornitza Stark Gene: gon7 has been classified as Green List (High Evidence).
Proteinuria v0.127 GON7 Zornitza Stark gene: GON7 was added
gene: GON7 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GON7 were set to 31481669
Phenotypes for gene: GON7 were set to Galloway-Mowat syndrome
Review for gene: GON7 was set to GREEN
Added comment: 11 individuals from 5 families. Four of the families had the same homozygous variant, shared haplotype suggestive of founder effect. Clinical features included proteinuria, microcephaly, brain malformations and developmental delay. Supportive functional data.
Sources: Literature
Proteinuria v0.126 LAGE3 Zornitza Stark Marked gene: LAGE3 as ready
Proteinuria v0.126 LAGE3 Zornitza Stark Gene: lage3 has been classified as Green List (High Evidence).
Proteinuria v0.126 LAGE3 Zornitza Stark Phenotypes for gene: LAGE3 were changed from to Galloway-Mowat syndrome 2, X-linked, MIM# 301006
Proteinuria v0.125 LAGE3 Zornitza Stark Publications for gene: LAGE3 were set to
Proteinuria v0.124 LAGE3 Zornitza Stark Mode of inheritance for gene: LAGE3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Proteinuria v0.123 LAGE3 Zornitza Stark reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828; Phenotypes: Galloway-Mowat syndrome 2, X-linked, MIM# 301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Proteinuria v0.123 TRIM8 Tiong Tan Marked gene: TRIM8 as ready
Proteinuria v0.123 TRIM8 Tiong Tan Gene: trim8 has been classified as Green List (High Evidence).
Proteinuria v0.123 TRIM8 Tiong Tan Classified gene: TRIM8 as Green List (high evidence)
Proteinuria v0.123 TRIM8 Tiong Tan Gene: trim8 has been classified as Green List (High Evidence).
Proteinuria v0.122 TRIM8 Tiong Tan gene: TRIM8 was added
gene: TRIM8 was added to Proteinuria. Sources: Literature
Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM8 were set to 30244534; 32193649
Phenotypes for gene: TRIM8 were set to intellectual disability; epileptic encephalopathy; nephrotic syndrome; proteinuria
Penetrance for gene: TRIM8 were set to Complete
Review for gene: TRIM8 was set to GREEN
Added comment: ~50% affected individuals have proteinuria, one confirmed with FSGS
Sources: Literature
Proteinuria v0.121 OSGEP Zornitza Stark Marked gene: OSGEP as ready
Proteinuria v0.121 OSGEP Zornitza Stark Gene: osgep has been classified as Green List (High Evidence).
Proteinuria v0.121 OSGEP Zornitza Stark Phenotypes for gene: OSGEP were changed from to Galloway-Mowat syndrome 3, MIM# 617729
Proteinuria v0.120 OSGEP Zornitza Stark Publications for gene: OSGEP were set to
Proteinuria v0.119 OSGEP Zornitza Stark Mode of inheritance for gene: OSGEP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.118 OSGEP Zornitza Stark reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 28272532; Phenotypes: Galloway-Mowat syndrome 3, MIM# 617729; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.118 NUP107 Zornitza Stark Marked gene: NUP107 as ready
Proteinuria v0.118 NUP107 Zornitza Stark Gene: nup107 has been classified as Green List (High Evidence).
Proteinuria v0.118 NUP107 Zornitza Stark Phenotypes for gene: NUP107 were changed from to Galloway-Mowat syndrome 7, MIM# 618348
Proteinuria v0.117 NUP107 Zornitza Stark Publications for gene: NUP107 were set to
Proteinuria v0.116 NUP107 Zornitza Stark Mode of inheritance for gene: NUP107 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.115 NUP107 Zornitza Stark Tag founder tag was added to gene: NUP107.
Proteinuria v0.115 NUP107 Zornitza Stark reviewed gene: NUP107: Rating: GREEN; Mode of pathogenicity: None; Publications: 28280135, 28117080, 30179222, 25558065; Phenotypes: Galloway-Mowat syndrome 7, MIM# 618348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.115 ACTN4 Zornitza Stark Marked gene: ACTN4 as ready
Proteinuria v0.115 ACTN4 Zornitza Stark Gene: actn4 has been classified as Green List (High Evidence).
Proteinuria v0.115 ACTN4 Zornitza Stark Phenotypes for gene: ACTN4 were changed from to Glomerulosclerosis, focal segmental, 1, MIM#603278
Proteinuria v0.114 ACTN4 Zornitza Stark Publications for gene: ACTN4 were set to
Proteinuria v0.113 ACTN4 Zornitza Stark Mode of inheritance for gene: ACTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.112 ACTN4 Zornitza Stark reviewed gene: ACTN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26740551, 22351778, 10700177, 26301083; Phenotypes: Glomerulosclerosis, focal segmental, 1, MIM#603278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.112 FAT1 Zornitza Stark Deleted their comment
Proteinuria v0.112 FAT1 Zornitza Stark edited their review of gene: FAT1: Added comment: Another 5 families reported.; Changed rating: GREEN; Changed publications: 30862798; Changed phenotypes: facial dysmorphism, colobomatous microphthalmia, ptosis, syndactyly with or without nephropathy; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.112 FAT1 Zornitza Stark Marked gene: FAT1 as ready
Proteinuria v0.112 FAT1 Zornitza Stark Added comment: Comment when marking as ready: Five families reported.
Proteinuria v0.112 FAT1 Zornitza Stark Gene: fat1 has been classified as Green List (High Evidence).
Proteinuria v0.112 FAT1 Zornitza Stark Phenotypes for gene: FAT1 were changed from to facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy
Proteinuria v0.111 FAT1 Zornitza Stark Publications for gene: FAT1 were set to
Proteinuria v0.110 FAT1 Zornitza Stark Mode of inheritance for gene: FAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.109 FAT1 Ee Ming Wong reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26905694; Phenotypes: SRNS, tubular ectasia, haematuria, facultative neurological involvement; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuria v0.109 ANLN Michelle Torres reviewed gene: ANLN: Rating: AMBER; Mode of pathogenicity: None; Publications: 24676636, 30002222; Phenotypes: Focal segmental glomerulosclerosis 8 616032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.109 ANLN Michelle Torres Deleted their review
Proteinuria v0.109 ANLN Michelle Torres reviewed gene: ANLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 24676636, 30002222; Phenotypes: Focal segmental glomerulosclerosis 8 616032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.109 SGPL1 Zornitza Stark Marked gene: SGPL1 as ready
Proteinuria v0.109 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Green List (High Evidence).
Proteinuria v0.109 SGPL1 Zornitza Stark Phenotypes for gene: SGPL1 were changed from to Nephrotic syndrome, type 14, MIM# 617575
Proteinuria v0.108 SGPL1 Zornitza Stark Publications for gene: SGPL1 were set to
Proteinuria v0.107 SGPL1 Zornitza Stark Mode of inheritance for gene: SGPL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.106 SGPL1 Zornitza Stark reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28165343, 28165339; Phenotypes: Nephrotic syndrome, type 14, MIM# 617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.106 KANK4 Zornitza Stark edited their review of gene: KANK4: Changed phenotypes: Nephrotic syndrome
Proteinuria v0.106 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Rare Disease
Proteinuria v0.105 LCAT Zornitza Stark Marked gene: LCAT as ready
Proteinuria v0.105 LCAT Zornitza Stark Gene: lcat has been classified as Green List (High Evidence).
Proteinuria v0.105 LCAT Zornitza Stark Classified gene: LCAT as Green List (high evidence)
Proteinuria v0.105 LCAT Zornitza Stark Gene: lcat has been classified as Green List (High Evidence).
Proteinuria v0.104 LCAT Zornitza Stark gene: LCAT was added
gene: LCAT was added to Proteinuria. Sources: Expert list
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCAT were set to Norum disease, MIM# 245900
Review for gene: LCAT was set to GREEN
gene: LCAT was marked as current diagnostic
Added comment: Disorder of lipoprotein metabolism presents with a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.
Sources: Expert list
Proteinuria v0.103 GLA Zornitza Stark Marked gene: GLA as ready
Proteinuria v0.103 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Proteinuria v0.103 GLA Zornitza Stark Classified gene: GLA as Green List (high evidence)
Proteinuria v0.103 GLA Zornitza Stark Gene: gla has been classified as Green List (High Evidence).
Proteinuria v0.102 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Proteinuria. Sources: Expert list
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GLA were set to 18033242
Phenotypes for gene: GLA were set to Fairy disease, MIM# 301500
Review for gene: GLA was set to GREEN
Added comment: Glomerular disease and proteinuria well documented manifestations of Fabry.
Sources: Expert list
Proteinuria v0.101 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Proteinuria v0.100 Zornitza Stark Panel name changed from Proteinuria_VCGS_KidGen to Proteinuria
Panel types changed to Victorian Clinical Genetics Services; KidGen
Proteinuria v0.98 ITSN1 Zornitza Stark Marked gene: ITSN1 as ready
Proteinuria v0.98 ITSN1 Zornitza Stark Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.98 TBC1D8B Zornitza Stark Marked gene: TBC1D8B as ready
Proteinuria v0.98 TBC1D8B Zornitza Stark Gene: tbc1d8b has been classified as Green List (High Evidence).
Proteinuria v0.98 ANLN Zornitza Stark Marked gene: ANLN as ready
Proteinuria v0.98 ANLN Zornitza Stark Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.98 ANLN Zornitza Stark Phenotypes for gene: ANLN were changed from Focal segmental glomerulosclerosis 8, OMIM #616032 to Focal segmental glomerulosclerosis 8, OMIM #616032
Proteinuria v0.97 ANLN Zornitza Stark Phenotypes for gene: ANLN were changed from to Focal segmental glomerulosclerosis 8, OMIM #616032
Proteinuria v0.96 ANLN Zornitza Stark Publications for gene: ANLN were set to
Proteinuria v0.95 ANLN Zornitza Stark Mode of inheritance for gene: ANLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.94 CD2AP Zornitza Stark Marked gene: CD2AP as ready
Proteinuria v0.94 CD2AP Zornitza Stark Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Proteinuria v0.94 CD2AP Zornitza Stark Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3, OMIM #607832 to Glomerulosclerosis, focal segmental, 3, OMIM #607832
Proteinuria v0.93 CD2AP Zornitza Stark Phenotypes for gene: CD2AP were changed from to Glomerulosclerosis, focal segmental, 3, OMIM #607832
Proteinuria v0.92 CD2AP Zornitza Stark Publications for gene: CD2AP were set to
Proteinuria v0.91 CD2AP Zornitza Stark Mode of inheritance for gene: CD2AP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.89 PODXL Zornitza Stark Marked gene: PODXL as ready
Proteinuria v0.89 PODXL Zornitza Stark Gene: podxl has been classified as Green List (High Evidence).
Proteinuria v0.89 PODXL Zornitza Stark Classified gene: PODXL as Green List (high evidence)
Proteinuria v0.89 PODXL Zornitza Stark Gene: podxl has been classified as Green List (High Evidence).
Proteinuria v0.88 TPRKB Zornitza Stark Marked gene: TPRKB as ready
Proteinuria v0.88 TPRKB Zornitza Stark Gene: tprkb has been classified as Green List (High Evidence).
Proteinuria v0.88 TPRKB Zornitza Stark Phenotypes for gene: TPRKB were changed from to Galloway-Mowat syndrome 5, OMIM #617731
Proteinuria v0.87 TPRKB Zornitza Stark Publications for gene: TPRKB were set to
Proteinuria v0.86 TPRKB Zornitza Stark Mode of inheritance for gene: TPRKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.85 TPRKB Chirag Patel reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28805828, 30053862; Phenotypes: Galloway-Mowat syndrome 5, OMIM #617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.85 XPO5 Zornitza Stark Classified gene: XPO5 as Red List (low evidence)
Proteinuria v0.85 XPO5 Zornitza Stark Gene: xpo5 has been classified as Red List (Low Evidence).
Proteinuria v0.84 TNS2 Zornitza Stark Marked gene: TNS2 as ready
Proteinuria v0.84 TNS2 Zornitza Stark Gene: tns2 has been classified as Green List (High Evidence).
Proteinuria v0.84 TNS2 Zornitza Stark Classified gene: TNS2 as Green List (high evidence)
Proteinuria v0.84 TNS2 Zornitza Stark Gene: tns2 has been classified as Green List (High Evidence).
Proteinuria v0.83 TNS2 Zornitza Stark gene: TNS2 was added
gene: TNS2 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: TNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNS2 were set to 29773874
Phenotypes for gene: TNS2 were set to Nephrotic syndrome
Review for gene: TNS2 was set to GREEN
Added comment: Five families reported in this paper reporting multiple new SRNS genes.
Sources: Expert list
Proteinuria v0.82 PODXL Chirag Patel gene: PODXL was added
gene: PODXL was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: PODXL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PODXL were set to PMID: 30523047, 29244787, 28117080, 24048372
Phenotypes for gene: PODXL were set to Nephrotic syndrome
Review for gene: PODXL was set to GREEN
Added comment: 2 cases with functional evidence that the variants may cause disease. Additional case of patient with SRNS where variant is predicted to be deleterious. 1 case with a variant in an individual with FSGS but no evidence variant affects protein function. A further case with a patient with compound heterozygous variants in PODXL and congenital nephrotic syndrome.

PMID: 30523047 - Lin et al 2019 - heterozygous nonsense PODXL mutations in two unrelated pedigrees: c.C976T (p. Arg326X) in a Chinese pedigree that was associated with proteinuria and renal insufficiency, and c.C1133G (p. Ser378X) in a British–Indian AD-FSGS pedigree. They also provide evidence with in vitro study showing that the heterozygous nonsense PODXL mutations may be causative in AD-FSGS.

PMID: 29244787 - Kang et al 2017 - report a patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL. The 2 variants were a missense mutation at the initiation codon c.3G>T (p.Met1Ile) and a nonsense mutation at c.1023G>A (p.Trp341Ter).

PMID: 28117080 - Bierzynska et al 2017 - Whole exome sequencing was performed on 187 paediatric patients with Steroid Resistant Nephrotic Syndrome (SRNS). 1 case found with variant in PODXL c.1427A>T:p.His476Leu which is predicted to be deleterious.

PMID: 24048372 - Barua et al 2014 - exome sequencing of affected cousins from an autosomal dominant pedigree with FSGS identified a cosegregating private variant, PODXL p.L442R. However, this change does not alter protein stability, extracellular domain glycosylation, cell surface expression, global subcellular localization, or interaction with its intracellular binding partner ezrin.
Sources: Literature
Proteinuria v0.82 PODXL Chirag Patel gene: PODXL was added
gene: PODXL was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: PODXL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PODXL were set to PMID: 30523047, 29244787, 28117080, 24048372
Phenotypes for gene: PODXL were set to Nephrotic syndrome
Review for gene: PODXL was set to GREEN
Added comment: 2 cases with functional evidence that the variants may cause disease. Additional case of patient with SRNS where variant is predicted to be deleterious. 1 case with a variant in an individual with FSGS but no evidence variant affects protein function. A further case with a patient with compound heterozygous variants in PODXL and congenital nephrotic syndrome.

PMID: 30523047 - Lin et al 2019 - heterozygous nonsense PODXL mutations in two unrelated pedigrees: c.C976T (p. Arg326X) in a Chinese pedigree that was associated with proteinuria and renal insufficiency, and c.C1133G (p. Ser378X) in a British–Indian AD-FSGS pedigree. They also provide evidence with in vitro study showing that the heterozygous nonsense PODXL mutations may be causative in AD-FSGS.

PMID: 29244787 - Kang et al 2017 - report a patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL. The 2 variants were a missense mutation at the initiation codon c.3G>T (p.Met1Ile) and a nonsense mutation at c.1023G>A (p.Trp341Ter).

PMID: 28117080 - Bierzynska et al 2017 - Whole exome sequencing was performed on 187 paediatric patients with Steroid Resistant Nephrotic Syndrome (SRNS). 1 case found with variant in PODXL c.1427A>T:p.His476Leu which is predicted to be deleterious.

PMID: 24048372 - Barua et al 2014 - exome sequencing of affected cousins from an autosomal dominant pedigree with FSGS identified a cosegregating private variant, PODXL p.L442R. However, this change does not alter protein stability, extracellular domain glycosylation, cell surface expression, global subcellular localization, or interaction with its intracellular binding partner ezrin.
Sources: Literature
Proteinuria v0.81 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.81 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.81 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.81 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.81 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.81 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.80 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.80 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.80 LAMA5 Chirag Patel Classified gene: LAMA5 as Amber List (moderate evidence)
Proteinuria v0.80 LAMA5 Chirag Patel Gene: lama5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.79 LAMA5 Chirag Patel reviewed gene: LAMA5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.79 KANK1 Chirag Patel Classified gene: KANK1 as Red List (low evidence)
Proteinuria v0.79 KANK1 Chirag Patel Gene: kank1 has been classified as Red List (Low Evidence).
Proteinuria v0.79 KANK4 Chirag Patel Classified gene: KANK4 as Red List (low evidence)
Proteinuria v0.79 KANK4 Chirag Patel Gene: kank4 has been classified as Red List (Low Evidence).
Proteinuria v0.78 KANK1 Chirag Patel reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.78 KANK4 Chirag Patel reviewed gene: KANK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.78 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.78 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.78 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.78 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.78 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.78 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.77 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.77 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.77 ITSN1 Chirag Patel Classified gene: ITSN1 as Green List (high evidence)
Proteinuria v0.77 ITSN1 Chirag Patel Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuria v0.76 ITSN1 Chirag Patel gene: ITSN1 was added
gene: ITSN1 was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: ITSN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITSN1 were set to PMID: 29773874
Phenotypes for gene: ITSN1 were set to Early childhood SSNS
Added comment: 3 unrelated families with rare ITSN1 variants and SRNS/CNS or SSNS.
Sources: Literature
Proteinuria v0.75 CD2AP Chirag Patel Classified gene: CD2AP as Amber List (moderate evidence)
Proteinuria v0.75 CD2AP Chirag Patel Gene: cd2ap has been classified as Amber List (Moderate Evidence).
Proteinuria v0.74 CD2AP Chirag Patel reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30612599, 17713465; Phenotypes: Glomerulosclerosis, focal segmental, 3, OMIM #607832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.74 ARHGAP24 Zornitza Stark Publications for gene: ARHGAP24 were set to 21911940
Proteinuria v0.73 ARHGAP24 Zornitza Stark Marked gene: ARHGAP24 as ready
Proteinuria v0.73 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Proteinuria v0.73 ARHGAP24 Zornitza Stark Phenotypes for gene: ARHGAP24 were changed from to FSGS
Proteinuria v0.72 ARHGAP24 Zornitza Stark Publications for gene: ARHGAP24 were set to
Proteinuria v0.71 ARHGAP24 Zornitza Stark Mode of inheritance for gene: ARHGAP24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.70 ARHGAP24 Zornitza Stark Classified gene: ARHGAP24 as Red List (low evidence)
Proteinuria v0.70 ARHGAP24 Zornitza Stark Gene: arhgap24 has been classified as Red List (Low Evidence).
Proteinuria v0.69 ARHGAP24 Zornitza Stark reviewed gene: ARHGAP24: Rating: RED; Mode of pathogenicity: None; Publications: 21911940; Phenotypes: FSGS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.69 APOL1 Chirag Patel Classified gene: APOL1 as Red List (low evidence)
Proteinuria v0.69 APOL1 Chirag Patel Gene: apol1 has been classified as Red List (Low Evidence).
Proteinuria v0.68 APOL1 Chirag Patel reviewed gene: APOL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.68 ANLN Chirag Patel Classified gene: ANLN as Amber List (moderate evidence)
Proteinuria v0.68 ANLN Chirag Patel Gene: anln has been classified as Amber List (Moderate Evidence).
Proteinuria v0.67 ANLN Chirag Patel reviewed gene: ANLN: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24676636, 30002222; Phenotypes: Focal segmental glomerulosclerosis 8, OMIM #616032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.67 DLC1 Zornitza Stark Marked gene: DLC1 as ready
Proteinuria v0.67 DLC1 Zornitza Stark Gene: dlc1 has been classified as Green List (High Evidence).
Proteinuria v0.67 DLC1 Zornitza Stark Classified gene: DLC1 as Green List (high evidence)
Proteinuria v0.67 DLC1 Zornitza Stark Gene: dlc1 has been classified as Green List (High Evidence).
Proteinuria v0.66 DLC1 Zornitza Stark gene: DLC1 was added
gene: DLC1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: DLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLC1 were set to 29773874
Phenotypes for gene: DLC1 were set to Neprhotic syndrome
Review for gene: DLC1 was set to GREEN
Added comment: Four unrelated families reported.
Sources: Expert list
Proteinuria v0.65 FN1 Zornitza Stark Marked gene: FN1 as ready
Proteinuria v0.65 FN1 Zornitza Stark Gene: fn1 has been classified as Green List (High Evidence).
Proteinuria v0.65 FN1 Zornitza Stark Classified gene: FN1 as Green List (high evidence)
Proteinuria v0.65 FN1 Zornitza Stark Gene: fn1 has been classified as Green List (High Evidence).
Proteinuria v0.64 FN1 Zornitza Stark Classified gene: FN1 as Green List (high evidence)
Proteinuria v0.64 FN1 Zornitza Stark Gene: fn1 has been classified as Green List (High Evidence).
Proteinuria v0.63 FN1 Zornitza Stark gene: FN1 was added
gene: FN1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FN1 were set to 18268355
Phenotypes for gene: FN1 were set to Glomerulopathy with fibronectin deposits 2, MIM# 601894
Review for gene: FN1 was set to GREEN
Added comment: Six unrelated families reported; mostly a nephrotic picture with some haematuria.
Sources: Expert list
Proteinuria v0.62 MAGI2 Zornitza Stark Marked gene: MAGI2 as ready
Proteinuria v0.62 MAGI2 Zornitza Stark Gene: magi2 has been classified as Green List (High Evidence).
Proteinuria v0.62 MAGI2 Zornitza Stark Phenotypes for gene: MAGI2 were changed from to Nephrotic syndrome, type 15, MIM# 617609
Proteinuria v0.61 MAGI2 Zornitza Stark Publications for gene: MAGI2 were set to
Proteinuria v0.60 MAGI2 Zornitza Stark Mode of inheritance for gene: MAGI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.59 MAGI2 Zornitza Stark reviewed gene: MAGI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27932480, 25271328, 25108225; Phenotypes: Nephrotic syndrome, type 15, MIM# 617609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.59 CD151 Zornitza Stark Marked gene: CD151 as ready
Proteinuria v0.59 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Proteinuria v0.59 CD151 Zornitza Stark Classified gene: CD151 as Green List (high evidence)
Proteinuria v0.59 CD151 Zornitza Stark Gene: cd151 has been classified as Green List (High Evidence).
Proteinuria v0.58 CD151 Zornitza Stark gene: CD151 was added
gene: CD151 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 15265795; 29138120
Phenotypes for gene: CD151 were set to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Review for gene: CD151 was set to GREEN
Added comment: Three families described in the literature.
Sources: Expert list
Proteinuria v0.57 TBC1D8B Zornitza Stark Phenotypes for gene: TBC1D8B were changed from to Nephrotic syndrome, type 20, MIM# 301028
Proteinuria v0.56 TBC1D8B Zornitza Stark Publications for gene: TBC1D8B were set to
Proteinuria v0.55 TBC1D8B Zornitza Stark Mode of inheritance for gene: TBC1D8B was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuria v0.54 TBC1D8B Belinda Chong reviewed gene: TBC1D8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30661770; Phenotypes: Nephrotic syndrome, type 20, MIM# 301028; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuria v0.54 NUP37 Zornitza Stark Marked gene: NUP37 as ready
Proteinuria v0.54 NUP37 Zornitza Stark Gene: nup37 has been classified as Red List (Low Evidence).
Proteinuria v0.54 NUP37 Zornitza Stark gene: NUP37 was added
gene: NUP37 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: NUP37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP37 were set to 30179222
Phenotypes for gene: NUP37 were set to Nephrotic syndrome
Review for gene: NUP37 was set to RED
Added comment: Single family reported.
Sources: Expert list
Proteinuria v0.53 NUP160 Zornitza Stark Marked gene: NUP160 as ready
Proteinuria v0.53 NUP160 Zornitza Stark Gene: nup160 has been classified as Red List (Low Evidence).
Proteinuria v0.53 NUP160 Zornitza Stark gene: NUP160 was added
gene: NUP160 was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: NUP160 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP160 were set to 30179222
Phenotypes for gene: NUP160 were set to Nephrotic syndrome, type 19, MIM#618178
Review for gene: NUP160 was set to RED
Added comment: Single family, no functional data.
Sources: Literature
Proteinuria v0.52 NUP133 Zornitza Stark Marked gene: NUP133 as ready
Proteinuria v0.52 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Proteinuria v0.52 NUP133 Zornitza Stark Classified gene: NUP133 as Green List (high evidence)
Proteinuria v0.52 NUP133 Zornitza Stark Gene: nup133 has been classified as Green List (High Evidence).
Proteinuria v0.51 NUP133 Zornitza Stark gene: NUP133 was added
gene: NUP133 was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP133 were set to 30179222
Phenotypes for gene: NUP133 were set to Nephrotic syndrome, type 18, MIM#618177
Review for gene: NUP133 was set to GREEN
Added comment: Two unrelated families with functional data.
Sources: Literature
Proteinuria v0.50 NUP85 Zornitza Stark Marked gene: NUP85 as ready
Proteinuria v0.50 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Proteinuria v0.50 NUP85 Zornitza Stark Classified gene: NUP85 as Green List (high evidence)
Proteinuria v0.50 NUP85 Zornitza Stark Gene: nup85 has been classified as Green List (High Evidence).
Proteinuria v0.49 NUP85 Zornitza Stark gene: NUP85 was added
gene: NUP85 was added to Proteinuria_VCGS_KidGen. Sources: Literature
Mode of inheritance for gene: NUP85 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP85 were set to 30179222
Phenotypes for gene: NUP85 were set to Nephrotic syndrome, type 17, MIM#618176
Review for gene: NUP85 was set to GREEN
Added comment: Three unrelated families described.
Sources: Literature
Proteinuria v0.48 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Proteinuria v0.48 PAX2 Zornitza Stark Gene: pax2 has been classified as Green List (High Evidence).
Proteinuria v0.48 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Glomerulosclerosis, focal segmental, 7, MIM#616002
Proteinuria v0.47 PAX2 Zornitza Stark Publications for gene: PAX2 were set to
Proteinuria v0.46 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.45 PAX2 Zornitza Stark reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24676634; Phenotypes: Glomerulosclerosis, focal segmental, 7, MIM#616002; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.45 TTC21B Zornitza Stark Marked gene: TTC21B as ready
Proteinuria v0.45 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Proteinuria v0.45 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, MIM#613820
Proteinuria v0.44 TTC21B Zornitza Stark Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.43 TTC21B Zornitza Stark Classified gene: TTC21B as Red List (low evidence)
Proteinuria v0.43 TTC21B Zornitza Stark Gene: ttc21b has been classified as Red List (Low Evidence).
Proteinuria v0.42 TTC21B Zornitza Stark reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 12, MIM#613820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.42 XPO5 Zornitza Stark Marked gene: XPO5 as ready
Proteinuria v0.42 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.42 XPO5 Zornitza Stark Classified gene: XPO5 as Amber List (moderate evidence)
Proteinuria v0.42 XPO5 Zornitza Stark Gene: xpo5 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.41 XPO5 Zornitza Stark gene: XPO5 was added
gene: XPO5 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: XPO5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPO5 were set to 26878725
Phenotypes for gene: XPO5 were set to Nephrotic syndrome
Review for gene: XPO5 was set to AMBER
Added comment: Singe family reported.
Sources: Expert list
Proteinuria v0.40 NUP93 Zornitza Stark Marked gene: NUP93 as ready
Proteinuria v0.40 NUP93 Zornitza Stark Gene: nup93 has been classified as Green List (High Evidence).
Proteinuria v0.40 NUP93 Zornitza Stark Classified gene: NUP93 as Green List (high evidence)
Proteinuria v0.40 NUP93 Zornitza Stark Gene: nup93 has been classified as Green List (High Evidence).
Proteinuria v0.39 NUP93 Zornitza Stark gene: NUP93 was added
gene: NUP93 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP93 were set to 26878725
Phenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12, MIM#616892
Review for gene: NUP93 was set to GREEN
Added comment: 7 individuals from six unrelated families reported with bi-allelic variants in this gene.
Sources: Expert list
Proteinuria v0.38 NUP205 Zornitza Stark Marked gene: NUP205 as ready
Proteinuria v0.38 NUP205 Zornitza Stark Gene: nup205 has been classified as Red List (Low Evidence).
Proteinuria v0.38 NUP205 Zornitza Stark gene: NUP205 was added
gene: NUP205 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: NUP205 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP205 were set to 26878725
Phenotypes for gene: NUP205 were set to Nephrotic syndrome, type 13, MIM#616893
Review for gene: NUP205 was set to RED
Added comment: Single family described so far.
Sources: Expert list
Proteinuria v0.37 LMNA Zornitza Stark Marked gene: LMNA as ready
Proteinuria v0.37 LMNA Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence).
Proteinuria v0.37 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from to Familial partial lipodystrophy; FSGS
Proteinuria v0.36 LMNA Zornitza Stark Publications for gene: LMNA were set to
Proteinuria v0.35 LMNA Zornitza Stark Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.34 LMNA Zornitza Stark Classified gene: LMNA as Red List (low evidence)
Proteinuria v0.34 LMNA Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence).
Proteinuria v0.33 LMNA Zornitza Stark reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: None; Publications: 24080738; Phenotypes: Familial partial lipodystrophy, FSGS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.33 KANK4 Zornitza Stark Marked gene: KANK4 as ready
Proteinuria v0.33 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.33 KANK4 Zornitza Stark Classified gene: KANK4 as Amber List (moderate evidence)
Proteinuria v0.33 KANK4 Zornitza Stark Gene: kank4 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.32 KANK4 Zornitza Stark gene: KANK4 was added
gene: KANK4 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: KANK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK4 were set to 25961457
Review for gene: KANK4 was set to AMBER
Added comment: Single family with two affected individuals reported; belongs to family of proteins implicated in nephrotic syndrome.
Sources: Expert list
Proteinuria v0.31 KANK1 Zornitza Stark Classified gene: KANK1 as Amber List (moderate evidence)
Proteinuria v0.31 KANK1 Zornitza Stark Added comment: Comment on list classification: Note previously discussed with Chirag Patel, Amber for now.
Proteinuria v0.31 KANK1 Zornitza Stark Gene: kank1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.30 KANK1 Zornitza Stark Classified gene: KANK1 as Amber List (moderate evidence)
Proteinuria v0.30 KANK1 Zornitza Stark Gene: kank1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.29 KANK2 Zornitza Stark Marked gene: KANK2 as ready
Proteinuria v0.29 KANK2 Zornitza Stark Gene: kank2 has been classified as Green List (High Evidence).
Proteinuria v0.29 KANK2 Zornitza Stark Classified gene: KANK2 as Green List (high evidence)
Proteinuria v0.29 KANK2 Zornitza Stark Gene: kank2 has been classified as Green List (High Evidence).
Proteinuria v0.28 KANK2 Zornitza Stark gene: KANK2 was added
gene: KANK2 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK2 were set to 25961457
Phenotypes for gene: KANK2 were set to Nephrotic syndrome, type 16, MIM#617783
Review for gene: KANK2 was set to GREEN
Added comment: Three unrelated families reported, animal model.
Sources: Expert list
Proteinuria v0.27 KANK1 Zornitza Stark Marked gene: KANK1 as ready
Proteinuria v0.27 KANK1 Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence).
Proteinuria v0.27 KANK1 Zornitza Stark gene: KANK1 was added
gene: KANK1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: KANK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK1 were set to 25961457
Phenotypes for gene: KANK1 were set to Nephrotic syndrome
Review for gene: KANK1 was set to RED
Added comment: Single family reported in the literature so far; belongs to family of proteins implicated in nephrotic syndrome.
Sources: Expert list
Proteinuria v0.26 ITGB4 Zornitza Stark Marked gene: ITGB4 as ready
Proteinuria v0.26 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
Proteinuria v0.26 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from to Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730
Proteinuria v0.25 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to 10873890
Proteinuria v0.25 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to 10873890
Proteinuria v0.24 ITGB4 Zornitza Stark Publications for gene: ITGB4 were set to
Proteinuria v0.23 ITGB4 Zornitza Stark Mode of inheritance for gene: ITGB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.22 ITGB4 Zornitza Stark Classified gene: ITGB4 as Red List (low evidence)
Proteinuria v0.22 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
Proteinuria v0.22 ITGB4 Zornitza Stark Classified gene: ITGB4 as Red List (low evidence)
Proteinuria v0.22 ITGB4 Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence).
Proteinuria v0.21 ITGB4 Zornitza Stark reviewed gene: ITGB4: Rating: RED; Mode of pathogenicity: None; Publications: 10873890; Phenotypes: Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.21 COQ8B Zornitza Stark Marked gene: COQ8B as ready
Proteinuria v0.21 COQ8B Zornitza Stark Gene: coq8b has been classified as Green List (High Evidence).
Proteinuria v0.21 COQ8B Zornitza Stark Classified gene: COQ8B as Green List (high evidence)
Proteinuria v0.21 COQ8B Zornitza Stark Gene: coq8b has been classified as Green List (High Evidence).
Proteinuria v0.20 COQ8B Zornitza Stark gene: COQ8B was added
gene: COQ8B was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8B were set to 24270420
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, MIM#615573
Review for gene: COQ8B was set to GREEN
Added comment: Sources: Expert list
Proteinuria v0.19 COQ8A Zornitza Stark Marked gene: COQ8A as ready
Proteinuria v0.19 COQ8A Zornitza Stark Gene: coq8a has been classified as Red List (Low Evidence).
Proteinuria v0.19 COQ8A Zornitza Stark Phenotypes for gene: COQ8A were changed from to Coenzyme Q10 deficiency, primary, 4, MIM#612016
Proteinuria v0.18 COQ8A Zornitza Stark Classified gene: COQ8A as Red List (low evidence)
Proteinuria v0.18 COQ8A Zornitza Stark Gene: coq8a has been classified as Red List (Low Evidence).
Proteinuria v0.17 COQ8A Zornitza Stark reviewed gene: COQ8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 4, MIM#612016; Mode of inheritance: None
Proteinuria v0.17 OCRL Zornitza Stark Marked gene: OCRL as ready
Proteinuria v0.17 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Proteinuria v0.17 OCRL Zornitza Stark Classified gene: OCRL as Green List (high evidence)
Proteinuria v0.17 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Proteinuria v0.16 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Dent disease 2, MIM#300555; Lowe syndrome, MIM#309000
Review for gene: OCRL was set to GREEN
Added comment: Low molecular weight proteinuria is a feature of these conditions.
Sources: Expert list
Proteinuria v0.15 CLCN5 Zornitza Stark Marked gene: CLCN5 as ready
Proteinuria v0.15 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Green List (High Evidence).
Proteinuria v0.15 CLCN5 Zornitza Stark Classified gene: CLCN5 as Green List (high evidence)
Proteinuria v0.15 CLCN5 Zornitza Stark Gene: clcn5 has been classified as Green List (High Evidence).
Proteinuria v0.14 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: CLCN5 were set to Dent disease, MIM#300009; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
Review for gene: CLCN5 was set to GREEN
Added comment: Low molecular weight proteinuria is part of the phenotype.
Sources: Expert list
Proteinuria v0.13 APOL1 Zornitza Stark Marked gene: APOL1 as ready
Proteinuria v0.13 APOL1 Zornitza Stark Gene: apol1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.13 APOL1 Zornitza Stark Classified gene: APOL1 as Amber List (moderate evidence)
Proteinuria v0.13 APOL1 Zornitza Stark Gene: apol1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.12 APOL1 Zornitza Stark Phenotypes for gene: APOL1 were changed from to {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551
Proteinuria v0.11 APOL1 Zornitza Stark Publications for gene: APOL1 were set to
Proteinuria v0.10 APOL1 Zornitza Stark Mode of inheritance for gene: APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.10 APOL1 Zornitza Stark Classified gene: APOL1 as Amber List (moderate evidence)
Proteinuria v0.10 APOL1 Zornitza Stark Gene: apol1 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.9 APOL1 Zornitza Stark reviewed gene: APOL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20647424, 24206458, 20635188; Phenotypes: {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.9 APOE Zornitza Stark Marked gene: APOE as ready
Proteinuria v0.9 APOE Zornitza Stark Gene: apoe has been classified as Green List (High Evidence).
Proteinuria v0.9 APOE Zornitza Stark Classified gene: APOE as Green List (high evidence)
Proteinuria v0.9 APOE Zornitza Stark Gene: apoe has been classified as Green List (High Evidence).
Proteinuria v0.8 APOE Zornitza Stark gene: APOE was added
gene: APOE was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: APOE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOE were set to 18077821; 28966924; 24348079
Phenotypes for gene: APOE were set to Lipoprotein glomerulopathy, MIM#611771
Review for gene: APOE was set to GREEN
Added comment: Sources: Expert list
Proteinuria v0.7 AMN Zornitza Stark Marked gene: AMN as ready
Proteinuria v0.7 AMN Zornitza Stark Gene: amn has been classified as Green List (High Evidence).
Proteinuria v0.7 AMN Zornitza Stark Classified gene: AMN as Green List (high evidence)
Proteinuria v0.7 AMN Zornitza Stark Gene: amn has been classified as Green List (High Evidence).
Proteinuria v0.6 AMN Zornitza Stark gene: AMN was added
gene: AMN was added to Proteinuria_VCGS_KidGen. Sources: Expert list
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 15024727
Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type, MIM#261100
Review for gene: AMN was set to GREEN
Added comment: Proteinuria is a key feature of this condition.
Sources: Expert list
Proteinuria v0.5 Zornitza Stark Panel name changed from Proteinuria_VCGS to Proteinuria_VCGS_KidGen
Proteinuria v0.4 Zornitza Stark Panel name changed from Nephrotic Syndrome_VCGS to Proteinuria_VCGS
Proteinuria v0.3 LAMA5 Zornitza Stark Marked gene: LAMA5 as ready
Proteinuria v0.3 LAMA5 Zornitza Stark Gene: lama5 has been classified as Green List (High Evidence).
Proteinuria v0.3 LAMA5 Zornitza Stark Phenotypes for gene: LAMA5 were changed from to Nephrotic syndrome
Proteinuria v0.2 LAMA5 Zornitza Stark Publications for gene: LAMA5 were set to
Proteinuria v0.1 LAMA5 Zornitza Stark Mode of inheritance for gene: LAMA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.0 LAMA5 Belinda Chong reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 29534211; Phenotypes: Nephrotic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuria v0.0 WT1 Zornitza Stark gene: WT1 was added
gene: WT1 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WT1 was set to Unknown
Proteinuria v0.0 WDR73 Zornitza Stark gene: WDR73 was added
gene: WDR73 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR73 was set to Unknown
Proteinuria v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC21B was set to Unknown
Proteinuria v0.0 TRPC6 Zornitza Stark gene: TRPC6 was added
gene: TRPC6 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPC6 was set to Unknown
Proteinuria v0.0 TPRKB Zornitza Stark gene: TPRKB was added
gene: TPRKB was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPRKB was set to Unknown
Proteinuria v0.0 TP53RK Zornitza Stark gene: TP53RK was added
gene: TP53RK was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TP53RK was set to Unknown
Proteinuria v0.0 TBC1D8B Zornitza Stark gene: TBC1D8B was added
gene: TBC1D8B was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D8B was set to Unknown
Proteinuria v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCAL1 was set to Unknown
Proteinuria v0.0 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SGPL1 was set to Unknown
Proteinuria v0.0 SCARB2 Zornitza Stark gene: SCARB2 was added
gene: SCARB2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCARB2 was set to Unknown
Proteinuria v0.0 PTPRO Zornitza Stark gene: PTPRO was added
gene: PTPRO was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTPRO was set to Unknown
Proteinuria v0.0 PLCE1 Zornitza Stark gene: PLCE1 was added
gene: PLCE1 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLCE1 was set to Unknown
Proteinuria v0.0 PDSS2 Zornitza Stark gene: PDSS2 was added
gene: PDSS2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDSS2 was set to Unknown
Proteinuria v0.0 PAX2 Zornitza Stark gene: PAX2 was added
gene: PAX2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX2 was set to Unknown
Proteinuria v0.0 OSGEP Zornitza Stark gene: OSGEP was added
gene: OSGEP was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OSGEP was set to Unknown
Proteinuria v0.0 NUP107 Zornitza Stark gene: NUP107 was added
gene: NUP107 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NUP107 was set to Unknown
Proteinuria v0.0 NPHS2 Zornitza Stark gene: NPHS2 was added
gene: NPHS2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHS2 was set to Unknown
Proteinuria v0.0 NPHS1 Zornitza Stark gene: NPHS1 was added
gene: NPHS1 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHS1 was set to Unknown
Proteinuria v0.0 MYO1E Zornitza Stark gene: MYO1E was added
gene: MYO1E was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYO1E was set to Unknown
Proteinuria v0.0 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYH9 was set to Unknown
Proteinuria v0.0 MAGI2 Zornitza Stark gene: MAGI2 was added
gene: MAGI2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAGI2 was set to Unknown
Proteinuria v0.0 LMX1B Zornitza Stark gene: LMX1B was added
gene: LMX1B was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMX1B was set to Unknown
Proteinuria v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMNA was set to Unknown
Proteinuria v0.0 LAMB2 Zornitza Stark gene: LAMB2 was added
gene: LAMB2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMB2 was set to Unknown
Proteinuria v0.0 LAMA5 Zornitza Stark gene: LAMA5 was added
gene: LAMA5 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMA5 was set to Unknown
Proteinuria v0.0 LAGE3 Zornitza Stark gene: LAGE3 was added
gene: LAGE3 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAGE3 was set to Unknown
Proteinuria v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGB4 was set to Unknown
Proteinuria v0.0 ITGA3 Zornitza Stark gene: ITGA3 was added
gene: ITGA3 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGA3 was set to Unknown
Proteinuria v0.0 INF2 Zornitza Stark gene: INF2 was added
gene: INF2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INF2 was set to Unknown
Proteinuria v0.0 FAT1 Zornitza Stark gene: FAT1 was added
gene: FAT1 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAT1 was set to Unknown
Proteinuria v0.0 EMP2 Zornitza Stark gene: EMP2 was added
gene: EMP2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EMP2 was set to Unknown
Proteinuria v0.0 DGKE Zornitza Stark gene: DGKE was added
gene: DGKE was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DGKE was set to Unknown
Proteinuria v0.0 CUBN Zornitza Stark gene: CUBN was added
gene: CUBN was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CUBN was set to Unknown
Proteinuria v0.0 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRB2 was set to Unknown
Proteinuria v0.0 COQ8A Zornitza Stark gene: COQ8A was added
gene: COQ8A was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ8A was set to Unknown
Proteinuria v0.0 COQ6 Zornitza Stark gene: COQ6 was added
gene: COQ6 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ6 was set to Unknown
Proteinuria v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ2 was set to Unknown
Proteinuria v0.0 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A5 was set to Unknown
Proteinuria v0.0 COL4A4 Zornitza Stark gene: COL4A4 was added
gene: COL4A4 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A4 was set to Unknown
Proteinuria v0.0 COL4A3 Zornitza Stark gene: COL4A3 was added
gene: COL4A3 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A3 was set to Unknown
Proteinuria v0.0 CD2AP Zornitza Stark gene: CD2AP was added
gene: CD2AP was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CD2AP was set to Unknown
Proteinuria v0.0 ARHGDIA Zornitza Stark gene: ARHGDIA was added
gene: ARHGDIA was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGDIA was set to Unknown
Proteinuria v0.0 ARHGAP24 Zornitza Stark gene: ARHGAP24 was added
gene: ARHGAP24 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGAP24 was set to Unknown
Proteinuria v0.0 APOL1 Zornitza Stark gene: APOL1 was added
gene: APOL1 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: APOL1 was set to Unknown
Proteinuria v0.0 ANLN Zornitza Stark gene: ANLN was added
gene: ANLN was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANLN was set to Unknown
Proteinuria v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALMS1 was set to Unknown
Proteinuria v0.0 ACTN4 Zornitza Stark gene: ACTN4 was added
gene: ACTN4 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACTN4 was set to Unknown
Proteinuria v0.0 Zornitza Stark Added panel Nephrotic Syndrome_VCGS