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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from CAKUT to CAKUT MONDO:0019719, LIFR-related
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.118 LIFR Zornitza Stark Publications for gene: LIFR were set to 28334964
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.117 LIFR Renee Santoreneos reviewed gene: LIFR: Rating: GREEN; Mode of pathogenicity: None; Publications: 38025229; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.117 BCORL1 Zornitza Stark Marked gene: BCORL1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.117 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.117 BCORL1 Zornitza Stark Classified gene: BCORL1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.117 BCORL1 Zornitza Stark Gene: bcorl1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.116 BCORL1 Zornitza Stark gene: BCORL1 was added
gene: BCORL1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Expert Review
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BCORL1 were set to Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related
Review for gene: BCORL1 was set to AMBER
Added comment: Emerging evidence of disease association.
Sources: Expert Review
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.115 TBC1D31 Zornitza Stark Marked gene: TBC1D31 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.115 TBC1D31 Zornitza Stark Gene: tbc1d31 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.115 TBC1D31 Zornitza Stark gene: TBC1D31 was added
gene: TBC1D31 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature
Mode of inheritance for gene: TBC1D31 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D31 were set to 37468454
Phenotypes for gene: TBC1D31 were set to congenital anomaly of kidney and urinary tract MONDO:0019719, TBC1D31-related
Review for gene: TBC1D31 was set to RED
Added comment: Single paper with homozygous mutations in 3 sibs with CAKUT from consanguineous family
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.114 SLC20A1 Zornitza Stark Phenotypes for gene: SLC20A1 were changed from Bladder-Exstrophy-Epispadias Complex (BEEC) to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.113 PTCH1 Chirag Patel Classified gene: PTCH1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.113 PTCH1 Chirag Patel Gene: ptch1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.112 PTCH1 Chirag Patel gene: PTCH1 was added
gene: PTCH1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Other
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTCH1 were set to Bladder exstrophy and epispadias complex (BEEC)
Review for gene: PTCH1 was set to AMBER
Added comment: ESHG 2023:
9 individuals with BEEC (WES/Sanger) with 9 x rare HTZ variants in PTCH1 (2 de novo, 7 inherited unaffected parent). No clinical features of Gorlin syndrome and variants not seen in Gorlin syndrome.

Zebrafish models:
a) knock out and knock in (1 missense variant) models showed no phenotype
b) co-injection of WT and missense variant led to altered cloaca on D5.
Proposed mechanism is dominant negative effect.
Sources: Other
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.110 Zornitza Stark List of related panels changed from to Abnormality of the urinary system HP:0000079
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.109 NPNT Zornitza Stark Marked gene: NPNT as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.109 NPNT Zornitza Stark Gene: npnt has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.109 NPNT Zornitza Stark Phenotypes for gene: NPNT were changed from Renal agenesis, no OMIM # to Renal agenesis, MONDO:0018470, NPNT-related
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.108 NPNT Zornitza Stark Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 NPNT Zornitza Stark reviewed gene: NPNT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal agenesis, MONDO:0018470, NPNT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 NPNT Chirag Patel Classified gene: NPNT as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 NPNT Chirag Patel Gene: npnt has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 NPNT Chirag Patel Classified gene: NPNT as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.107 NPNT Chirag Patel Gene: npnt has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.106 NPNT Chirag Patel gene: NPNT was added
gene: NPNT was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature
Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPNT were set to PMID: 35246978, 34049960, 17537792
Phenotypes for gene: NPNT were set to Renal agenesis, no OMIM #
Review for gene: NPNT was set to GREEN
Added comment: 3 consanguineous families with multiple affecteds with bilateral renal agenesis. Whole-exome sequencing (WES)-based homozygosity mapping identified 2 homozygous truncating variants. Reverse transcription polymerase chain reaction data showing complete nonsense-mediated decay of the NPNT transcript. Loss of nephronectin (NPNT) is known to lead to failure of metanephric kidney development with resulting renal agenesis in murine models.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.105 GFRA1 Zornitza Stark Phenotypes for gene: GFRA1 were changed from Renal agenesis to Renal hypodysplasia/aplasia 4, MIM# 619887
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.104 GFRA1 Zornitza Stark edited their review of gene: GFRA1: Changed phenotypes: Renal hypodysplasia/aplasia 4, MIM# 619887
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.104 CDX2 Zornitza Stark Mode of inheritance for gene: CDX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.103 CDX2 Zornitza Stark Publications for gene: CDX2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.102 CDX2 Zornitza Stark Phenotypes for gene: CDX2 were changed from to Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005; Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.101 CDX2 Chirag Patel Classified gene: CDX2 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.101 CDX2 Chirag Patel Gene: cdx2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.100 CDX2 Chirag Patel edited their review of gene: CDX2: Added comment: 9 families, with heterozygous variants identified with WES, presenting with congenital abnormalities affecting the development of the anus, the renal and urogenital system, the vertebrae and/or the limbs in varying sequences and severity (incl. sirenomelia and persistent cloaca). A recurrent pathogenic missense variant in the HOX domain of the protein p.(Arg237His) was found in 3 unrelated families. In the mouse cdx2 is essential for anteroposterior patterning of embryonal axis and morphogenesis of cloacal structures. Cdx2 heterozygous conditional mutant mice show a variable phenotype (including imperforate anus, sirenomelia, posterior vertebral truncations, and bladder anomalies).; Changed rating: GREEN; Changed publications: PMID: 29177441, 34671974; Changed phenotypes: Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.100 TBX18 Zornitza Stark Marked gene: TBX18 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.100 TBX18 Zornitza Stark Gene: tbx18 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.100 TBX18 Zornitza Stark Phenotypes for gene: TBX18 were changed from to Congenital anomalies of kidney and urinary tract 2, MIM# 143400
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.99 TBX18 Zornitza Stark Publications for gene: TBX18 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.98 TBX18 Zornitza Stark Mode of inheritance for gene: TBX18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.97 TBX18 Zornitza Stark reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 26235987; Phenotypes: Congenital anomalies of kidney and urinary tract 2, MIM# 143400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.97 GFRA1 Zornitza Stark Publications for gene: GFRA1 were set to 33020172
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.96 GFRA1 Zornitza Stark Classified gene: GFRA1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.96 GFRA1 Zornitza Stark Gene: gfra1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.95 GFRA1 Zornitza Stark edited their review of gene: GFRA1: Added comment: PMID: 34737117;
4 neonates from a consanguineous family who presented with lethal renal disease. Homozygous for (NM_005264.8:c.628G > T:p.[Gly210Ter]); Changed rating: GREEN; Changed publications: 33020172, 34737117
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.95 CHRNA3 Zornitza Stark Phenotypes for gene: CHRNA3 were changed from CAKUT; dysautonomia to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.94 HPSE2 Zornitza Stark Marked gene: HPSE2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.94 HPSE2 Zornitza Stark Gene: hpse2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.94 HPSE2 Zornitza Stark Phenotypes for gene: HPSE2 were changed from to Urofacial syndrome 1 MIM#236730
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.93 HPSE2 Zornitza Stark Publications for gene: HPSE2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.92 HPSE2 Zornitza Stark Mode of inheritance for gene: HPSE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.91 HPSE2 Zornitza Stark reviewed gene: HPSE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25145936, 23313374, 33558177; Phenotypes: Urofacial syndrome 1 MIM#236730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.91 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.90 DSTYK Zornitza Stark Tag disputed tag was added to gene: DSTYK.
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.90 DSTYK Zornitza Stark Classified gene: DSTYK as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.90 DSTYK Zornitza Stark Gene: dstyk has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.89 DSTYK Ain Roesley reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: 23862974; Phenotypes: Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.89 WNT9B Zornitza Stark Marked gene: WNT9B as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.89 WNT9B Zornitza Stark Gene: wnt9b has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.89 WNT9B Zornitza Stark Classified gene: WNT9B as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.89 WNT9B Zornitza Stark Gene: wnt9b has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.88 WNT9B Chirag Patel gene: WNT9B was added
gene: WNT9B was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature
Mode of inheritance for gene: WNT9B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT9B were set to PMID: 34145744
Phenotypes for gene: WNT9B were set to Renal agenesis/hypoplasia/dysplasia, no OMIM #
Review for gene: WNT9B was set to AMBER
Added comment: WNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansion and differentiation. WNT9B−/− mice have renal agenesis/hypoplasia and reproductive tract abnormalities.

Lemire et al. (2021) report 4 individuals from 2 unrelated consanguineous families with bilateral renal agenesis/hypoplasia/dysplasia and homozygous variants in WNT9B. The proband from Family 1 had bilateral renal cystic dysplasia and chronic kidney disease, with 2 deceased siblings with bilateral renal hypoplasia/agenesis. The 3 affected family members were homozygous for a Gly317Arg missense variant in WNT9B. Proband from Family 2 had renal hypoplasia/dysplasia, chronic kidney disease, and was homozygous for a Pro5Alafs*52 nonsense variant in WNT9B. The proband's unaffected brother is also homozygous for the nonsense variant in WNT9B, suggesting nonpenetrance.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.87 ITGA8 Zornitza Stark Marked gene: ITGA8 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.87 ITGA8 Zornitza Stark Gene: itga8 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.87 ITGA8 Zornitza Stark Phenotypes for gene: ITGA8 were changed from to Renal hypodysplasia/aplasia 1, MIM# 191830
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.86 ITGA8 Zornitza Stark Publications for gene: ITGA8 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.85 ITGA8 Zornitza Stark Mode of inheritance for gene: ITGA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.84 ITGA8 Zornitza Stark reviewed gene: ITGA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24439109; Phenotypes: Renal hypodysplasia/aplasia 1, MIM# 191830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.84 GFRA1 Zornitza Stark Marked gene: GFRA1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.84 GFRA1 Zornitza Stark Gene: gfra1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.84 GFRA1 Zornitza Stark Classified gene: GFRA1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.84 GFRA1 Zornitza Stark Gene: gfra1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.83 GFRA1 Zornitza Stark gene: GFRA1 was added
gene: GFRA1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature
Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFRA1 were set to 33020172
Phenotypes for gene: GFRA1 were set to Renal agenesis
Review for gene: GFRA1 was set to AMBER
Added comment: Two unrelated families reported with bi-allelic LOF variants identified in individuals with bilateral renal agenesis. GFRA1 gene encodes a receptor on the Wolffian duct that regulates ureteric bud outgrowth in the development of a functional renal system
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.82 FOXC1 Chirag Patel Classified gene: FOXC1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.82 FOXC1 Chirag Patel Gene: foxc1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.82 FOXC1 Chirag Patel Classified gene: FOXC1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.82 FOXC1 Chirag Patel Gene: foxc1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.82 FOXC1 Chirag Patel Classified gene: FOXC1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.82 FOXC1 Chirag Patel Gene: foxc1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.81 FOXC1 Chirag Patel gene: FOXC1 was added
gene: FOXC1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC1 were set to PMID: 32475988
Phenotypes for gene: FOXC1 were set to Congenital anomalies of the kidney and urinary tract (CAKUT)
Review for gene: FOXC1 was set to AMBER
Added comment: Seven FOXC1 'pathogenic' variants in 8 CAKUT families identified through WES. All individuals carrying the FOXC1 pathogenic variants are heterozygote. There was incomplete penetrance and variable expressivity in families. None of the 7 pathogenic variants were reported before in patients with Axenfeld–Rieger syndrome, anterior segment dysgenesis, or congenital glaucoma. Two of the seven pathogenic variants are novel, i.e., they were never observed in the population database before, including the gnomAD database that collects 141,456 control individuals.34 The other five pathogenic variants, though reported in the population database, are present in less than five individuals as a heterozygote. The locations of these pathogenic variants do not cluster in the forkhead domain (where variants causing Axenfeld–Rieger syndrome or anterior segment dysgenesis are located).
NB they call them pathogenic - but no documentation of ACMG criteria used.

Previous animal studies show CAKUT in homozygous and heterozygous mice.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.80 GATA3 Zornitza Stark Marked gene: GATA3 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.80 GATA3 Zornitza Stark Gene: gata3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.80 GATA3 Zornitza Stark Phenotypes for gene: GATA3 were changed from to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.79 GATA3 Zornitza Stark Publications for gene: GATA3 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.78 GATA3 Zornitza Stark Mode of inheritance for gene: GATA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.77 GATA3 Zornitza Stark reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.77 DSTYK Zornitza Stark Marked gene: DSTYK as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.77 DSTYK Zornitza Stark Gene: dstyk has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.77 DSTYK Zornitza Stark Phenotypes for gene: DSTYK were changed from to Congenital anomalies of kidney and urinary tract 1, MIM# 610805
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.76 DSTYK Zornitza Stark Publications for gene: DSTYK were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.75 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.74 DSTYK Zornitza Stark reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: None; Publications: 23862974, 23862974, 28618409; Phenotypes: Congenital anomalies of kidney and urinary tract 1, MIM# 610805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.74 SLC20A1 Zornitza Stark Marked gene: SLC20A1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.74 SLC20A1 Zornitza Stark Gene: slc20a1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.74 SLC20A1 Zornitza Stark Classified gene: SLC20A1 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.74 SLC20A1 Zornitza Stark Gene: slc20a1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.73 SLC20A1 Zornitza Stark gene: SLC20A1 was added
gene: SLC20A1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature
Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC20A1 were set to 32850778; 27013921
Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC)
Review for gene: SLC20A1 was set to GREEN
Added comment: Three individuals and animal model supporting role of this gene in urinary tract and urorectal development.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.72 CHD1L Zornitza Stark Marked gene: CHD1L as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.72 CHD1L Zornitza Stark Added comment: Comment when marking as ready: The population variant frequencies are out of keeping for a Mendelian disorder.
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.72 CHD1L Zornitza Stark Gene: chd1l has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.72 CHD1L Zornitza Stark Classified gene: CHD1L as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.72 CHD1L Zornitza Stark Gene: chd1l has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.71 CHD1L Zornitza Stark Tag disputed tag was added to gene: CHD1L.
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.71 CHD1L Melanie Marty reviewed gene: CHD1L: Rating: AMBER; Mode of pathogenicity: None; Publications: 22146311, 24429398; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.71 TRAP1 Zornitza Stark Marked gene: TRAP1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.71 TRAP1 Zornitza Stark Gene: trap1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.71 TRAP1 Zornitza Stark Phenotypes for gene: TRAP1 were changed from to CAKUT; VACTERL
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.70 TRAP1 Zornitza Stark Publications for gene: TRAP1 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.69 TRAP1 Zornitza Stark Mode of inheritance for gene: TRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.68 TRAP1 Zornitza Stark reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24152966; Phenotypes: CAKUT, VACTERL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.68 SLIT2 Zornitza Stark Marked gene: SLIT2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.68 SLIT2 Zornitza Stark Gene: slit2 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.68 SLIT2 Zornitza Stark Phenotypes for gene: SLIT2 were changed from to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.67 SLIT2 Zornitza Stark Publications for gene: SLIT2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.66 SLIT2 Zornitza Stark Mode of inheritance for gene: SLIT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.65 SLIT2 Zornitza Stark Classified gene: SLIT2 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.65 SLIT2 Zornitza Stark Gene: slit2 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.64 SLIT2 Zornitza Stark reviewed gene: SLIT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26026792, 15130495; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.64 BICC1 Zornitza Stark Phenotypes for gene: BICC1 were changed from {Renal dysplasia, cystic, susceptibility to}; OMIM #601331 to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.64 BICC1 Zornitza Stark Publications for gene: BICC1 were set to 21922595
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.63 BICC1 Zornitza Stark Marked gene: BICC1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.63 BICC1 Zornitza Stark Gene: bicc1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.63 BICC1 Zornitza Stark Phenotypes for gene: BICC1 were changed from to {Renal dysplasia, cystic, susceptibility to}; OMIM #601331
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.63 BICC1 Zornitza Stark Publications for gene: BICC1 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.62 BICC1 Zornitza Stark Mode of inheritance for gene: BICC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 BMP7 Zornitza Stark Marked gene: BMP7 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 BMP7 Zornitza Stark Gene: bmp7 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 BNC2 Zornitza Stark Marked gene: BNC2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 BNC2 Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 CHD1L Zornitza Stark Phenotypes for gene: CHD1L were changed from CAKUT to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 CHD1L Zornitza Stark Marked gene: CHD1L as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 CHD1L Zornitza Stark Gene: chd1l has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 CHD1L Zornitza Stark Phenotypes for gene: CHD1L were changed from to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.60 CHD1L Zornitza Stark Publications for gene: CHD1L were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.60 CHD1L Zornitza Stark Mode of inheritance for gene: CHD1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.59 FGF8 Zornitza Stark Phenotypes for gene: FGF8 were changed from Hypogonadotropic hypogonadism 6 with or without anosmia; OMIM #612702 to Hypogonadotropic hypogonadism 6 with or without anosmia; OMIM #612702
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.59 FGF8 Zornitza Stark Marked gene: FGF8 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.59 FGF8 Zornitza Stark Gene: fgf8 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.59 FGF8 Zornitza Stark Phenotypes for gene: FGF8 were changed from to Hypogonadotropic hypogonadism 6 with or without anosmia; OMIM #612702
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.58 FGF8 Zornitza Stark Mode of inheritance for gene: FGF8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.57 GREB1L Zornitza Stark Phenotypes for gene: GREB1L were changed from Renal hypodysplasia/aplasia 3, OMIM# 617805 to Renal hypodysplasia/aplasia 3, OMIM# 617805
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.57 GREB1L Zornitza Stark Marked gene: GREB1L as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.57 GREB1L Zornitza Stark Gene: greb1l has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.57 GREB1L Zornitza Stark Phenotypes for gene: GREB1L were changed from to Renal hypodysplasia/aplasia 3, OMIM# 617805
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.56 GREB1L Zornitza Stark Publications for gene: GREB1L were set to 29100091
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.56 GREB1L Zornitza Stark Publications for gene: GREB1L were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.55 GREB1L Zornitza Stark Mode of inheritance for gene: GREB1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.54 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from CAKUT to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.53 LIFR Zornitza Stark Phenotypes for gene: LIFR were changed from to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.52 SIX2 Zornitza Stark Publications for gene: SIX2 were set to 24429398
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.52 SIX2 Zornitza Stark Marked gene: SIX2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.52 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.52 SIX2 Zornitza Stark Publications for gene: SIX2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.51 SIX2 Zornitza Stark Phenotypes for gene: SIX2 were changed from to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.51 SIX2 Zornitza Stark Mode of inheritance for gene: SIX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.50 SOX17 Zornitza Stark Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3; OMIM #613674 to Vesicoureteral reflux 3; OMIM #613674
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.49 SOX17 Zornitza Stark Marked gene: SOX17 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.49 SOX17 Zornitza Stark Gene: sox17 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.49 SOX17 Zornitza Stark Phenotypes for gene: SOX17 were changed from to Vesicoureteral reflux 3; OMIM #613674
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.49 SOX17 Zornitza Stark Publications for gene: SOX17 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.48 SOX17 Zornitza Stark Mode of inheritance for gene: SOX17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.47 TBC1D1 Zornitza Stark Phenotypes for gene: TBC1D1 were changed from CAKUT to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.47 TBC1D1 Zornitza Stark Marked gene: TBC1D1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.47 TBC1D1 Zornitza Stark Gene: tbc1d1 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.47 TBC1D1 Zornitza Stark Publications for gene: TBC1D1 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.46 TBC1D1 Zornitza Stark Phenotypes for gene: TBC1D1 were changed from to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.46 TNXB Zornitza Stark Marked gene: TNXB as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.46 TNXB Zornitza Stark Gene: tnxb has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.46 TNXB Zornitza Stark Mode of inheritance for gene: TNXB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.45 TNXB Zornitza Stark Phenotypes for gene: TNXB were changed from to Vesicoureteral reflux 8, MIM# 615963
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.45 TNXB Zornitza Stark Publications for gene: TNXB were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.45 TNXB Zornitza Stark Mode of inheritance for gene: TNXB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.45 TBC1D1 Zornitza Stark Mode of inheritance for gene: TBC1D1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.44 TNXB Zornitza Stark Classified gene: TNXB as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.44 TNXB Zornitza Stark Gene: tnxb has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.43 WNT4 Zornitza Stark Phenotypes for gene: WNT4 were changed from SERKAL syndrome; OMIM #611812 to SERKAL syndrome; OMIM #611812
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.43 WNT4 Zornitza Stark Marked gene: WNT4 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.43 WNT4 Zornitza Stark Gene: wnt4 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.43 WNT4 Zornitza Stark Phenotypes for gene: WNT4 were changed from to SERKAL syndrome; OMIM #611812
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.42 WNT4 Zornitza Stark Publications for gene: WNT4 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.41 WNT4 Zornitza Stark Mode of inheritance for gene: WNT4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.40 SRGAP1 Zornitza Stark Phenotypes for gene: SRGAP1 were changed from CAKUT to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.40 SRGAP1 Zornitza Stark Phenotypes for gene: SRGAP1 were changed from CAKUT to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.40 SRGAP1 Zornitza Stark Publications for gene: SRGAP1 were set to 26026792
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.40 SRGAP1 Zornitza Stark Marked gene: SRGAP1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.40 SRGAP1 Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.40 SRGAP1 Zornitza Stark Phenotypes for gene: SRGAP1 were changed from to CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.39 SRGAP1 Zornitza Stark Publications for gene: SRGAP1 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.38 WNT4 Chirag Patel Classified gene: WNT4 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.38 WNT4 Chirag Patel Gene: wnt4 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 WNT4 Chirag Patel reviewed gene: WNT4: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 18179883; Phenotypes: ?SERKAL syndrome, OMIM #611812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 TNXB Zornitza Stark reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: None; Publications: 23620400; Phenotypes: Vesicoureteral reflux 8, MIM# 615963; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 TBC1D1 Chirag Patel reviewed gene: TBC1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26572137; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 SOX17 Chirag Patel Classified gene: SOX17 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 SOX17 Chirag Patel Gene: sox17 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 SOX17 Chirag Patel Classified gene: SOX17 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 SOX17 Chirag Patel Gene: sox17 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.36 SOX17 Chirag Patel reviewed gene: SOX17: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20960469; Phenotypes: Vesicoureteral reflux 3, OMIM #613674; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.36 SRGAP1 Zornitza Stark Mode of inheritance for gene: SRGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.36 SRGAP1 Zornitza Stark Classified gene: SRGAP1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.36 SRGAP1 Zornitza Stark Gene: srgap1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.35 SRGAP1 Zornitza Stark reviewed gene: SRGAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26026792; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.35 SIX2 Zornitza Stark Classified gene: SIX2 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.35 SIX2 Zornitza Stark Gene: six2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.34 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.33 SIX2 Zornitza Stark reviewed gene: SIX2: Rating: RED; Mode of pathogenicity: None; Publications: 24429398; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.33 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.32 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.31 NPHP3 Zornitza Stark Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.30 NPHP3 Zornitza Stark Classified gene: NPHP3 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.30 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.29 NPHP3 Zornitza Stark reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.29 LIFR Chirag Patel changed review comment from: 4 unrelated patients with CAKUT, including functional mouse models.

BUT gene also causes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome with biallelic mutations.; to: 4 unrelated patients with CAKUT, including functional mouse models.

BUT gene also causes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome with biallelic mutations.
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.29 GREB1L Chirag Patel reviewed gene: GREB1L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29100091; Phenotypes: Renal hypodysplasia/aplasia 3, OMIM# 617805; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.29 FGF8 Chirag Patel Classified gene: FGF8 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.29 FGF8 Chirag Patel Gene: fgf8 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.28 FGF8 Chirag Patel reviewed gene: FGF8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 6 with or without anosmia, OMIM #612702; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.28 CDC5L Zornitza Stark Classified gene: CDC5L as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.28 CDC5L Zornitza Stark Gene: cdc5l has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.27 CHD1L Chirag Patel reviewed gene: CHD1L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22146311, 24429398; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.27 BNC2 Chirag Patel Classified gene: BNC2 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.27 BNC2 Chirag Patel Gene: bnc2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.26 BNC2 Chirag Patel gene: BNC2 was added
gene: BNC2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC2 were set to PMID: 31656805, 31051115
Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital; OMIM #618612
Review for gene: BNC2 was set to GREEN
Added comment: Kolvenbach CM et al., (2019) supports the rating of this gene from Amber to Green. Though exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853∗]) in BNC2, encoding basonuclin 2, tracking with LUTO over three generations. Re-sequencing BNC2 in 697 individuals with LUTO revealed three further independent missense variants in three unrelated families. In human and mouse embryogenesis, basonuclin 2 was detected in lower urinary-tract rudiments. In zebrafish embryos, bnc2 was expressed in the pronephric duct and cloaca, analogs of the mammalian lower urinary tract. Experimental knockdown of Bnc2 in zebrafish caused pronephric-outlet obstruction and cloacal dilatation, phenocopying human congenital LUTO. Collectively, these results support the conclusion that variants in BNC2 are strongly implicated in LUTO etiology as a result of anatomical blockage.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.25 CDC5L Zornitza Stark Classified gene: CDC5L as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.25 CDC5L Zornitza Stark Gene: cdc5l has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.24 BMP7 Chirag Patel changed review comment from: only 1 patient in large cohort of CAKUT.; to: only 1 family with mouse model in large cohort of CAKUT.
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.24 BMP7 Chirag Patel Classified gene: BMP7 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.24 BMP7 Chirag Patel Gene: bmp7 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.23 BMP7 Chirag Patel reviewed gene: BMP7: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24429398; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.23 BICC1 Chirag Patel Classified gene: BICC1 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.23 BICC1 Chirag Patel Gene: bicc1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.22 BICC1 Chirag Patel reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 21922595; Phenotypes: {Renal dysplasia, cystic, susceptibility to}, OMIM #601331; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.22 Zornitza Stark Panel name changed from Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.21 CBWD1 Zornitza Stark Marked gene: CBWD1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.21 CBWD1 Zornitza Stark Gene: cbwd1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.21 CBWD1 Zornitza Stark gene: CBWD1 was added
gene: CBWD1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Literature
Mode of inheritance for gene: CBWD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBWD1 were set to 31862704
Phenotypes for gene: CBWD1 were set to CAKUT
Review for gene: CBWD1 was set to RED
Added comment: A pair of siblings with homozygous deletion in this gene reported; functional data including animal model.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.20 CHRNA3 Zornitza Stark Marked gene: CHRNA3 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.20 CHRNA3 Zornitza Stark Gene: chrna3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.20 CHRNA3 Zornitza Stark Classified gene: CHRNA3 as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.20 CHRNA3 Zornitza Stark Gene: chrna3 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.19 CHRNA3 Zornitza Stark gene: CHRNA3 was added
gene: CHRNA3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Literature
Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA3 were set to 31708116
Phenotypes for gene: CHRNA3 were set to CAKUT; dysautonomia
Review for gene: CHRNA3 was set to GREEN
Added comment: Five affected individuals from three unrelated families.
Sources: Literature
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.18 SOX11 Zornitza Stark Marked gene: SOX11 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.18 SOX11 Zornitza Stark Gene: sox11 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.18 SOX11 Zornitza Stark Classified gene: SOX11 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.18 SOX11 Zornitza Stark Gene: sox11 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.17 SOX11 Zornitza Stark gene: SOX11 was added
gene: SOX11 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX11 were set to 29459093; 24886874
Phenotypes for gene: SOX11 were set to Congenital abnormalities of the kidneys and urinary tract
Review for gene: SOX11 was set to AMBER
Added comment: Heterozygous variant in a patient with Coffin-Siris like syndrome and small kidney; but also rare variants identified in a non-syndromic CAKUT cohort with some functional data.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.16 FGF20 Zornitza Stark Marked gene: FGF20 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.16 FGF20 Zornitza Stark Gene: fgf20 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.16 FGF20 Zornitza Stark Classified gene: FGF20 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.16 FGF20 Zornitza Stark Gene: fgf20 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.15 FGF20 Zornitza Stark gene: FGF20 was added
gene: FGF20 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF20 were set to 22698282
Phenotypes for gene: FGF20 were set to Renal hypodysplasia/aplasia 2, MIM#615721
Review for gene: FGF20 was set to AMBER
Added comment: Multiple affected fetuses in a consanguineous family; functional data.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.14 BMP7 Zornitza Stark Marked gene: BMP7 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.14 BMP7 Zornitza Stark Gene: bmp7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.14 BMP7 Zornitza Stark Classified gene: BMP7 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.14 BMP7 Zornitza Stark Gene: bmp7 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.13 BMP7 Zornitza Stark gene: BMP7 was added
gene: BMP7 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMP7 were set to 24429398
Phenotypes for gene: BMP7 were set to Congenital abnormalities of the kidneys and urinary tract
Review for gene: BMP7 was set to AMBER
Added comment: Two individuals from one family; mouse model.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.12 CDC5L Zornitza Stark Marked gene: CDC5L as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.12 CDC5L Zornitza Stark Gene: cdc5l has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.12 CDC5L Zornitza Stark Classified gene: CDC5L as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.12 CDC5L Zornitza Stark Gene: cdc5l has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.11 CDC5L Zornitza Stark gene: CDC5L was added
gene: CDC5L was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: CDC5L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC5L were set to 24429398
Phenotypes for gene: CDC5L were set to Congenital abnormalities of the kidneys and urinary tract
Review for gene: CDC5L was set to AMBER
Added comment: Two individuals from a single family with heterozygous variant in this gene.
Sources: Expert list
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.10 CDX2 Zornitza Stark Marked gene: CDX2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.10 CDX2 Zornitza Stark Gene: cdx2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.10 CDX2 Zornitza Stark Classified gene: CDX2 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.10 CDX2 Zornitza Stark Gene: cdx2 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.9 Chirag Patel removed gene:CTU2 from the panel
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.8 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.8 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.8 FGFR1 Zornitza Stark Classified gene: FGFR1 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.8 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.7 HOXA4 Zornitza Stark Marked gene: HOXA4 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.7 HOXA4 Zornitza Stark Gene: hoxa4 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.7 HOXA4 Zornitza Stark Classified gene: HOXA4 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.7 HOXA4 Zornitza Stark Gene: hoxa4 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.6 HOXB6 Zornitza Stark Marked gene: HOXB6 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.6 HOXB6 Zornitza Stark Added comment: Comment when marking as ready: A link reported to hypospadias in 22371315.
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.6 HOXB6 Zornitza Stark Gene: hoxb6 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.6 HOXB6 Zornitza Stark Classified gene: HOXB6 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.6 HOXB6 Zornitza Stark Gene: hoxb6 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.5 LIFR Zornitza Stark Marked gene: LIFR as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.5 LIFR Zornitza Stark Added comment: Comment when marking as ready: Mouse model recapitulates human phenotype. Postulate that LoF variants cause the renal phenotype.
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.5 LIFR Zornitza Stark Gene: lifr has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.5 LIFR Zornitza Stark Publications for gene: LIFR were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.4 LIFR Zornitza Stark Mode of inheritance for gene: LIFR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.3 NPHP3 Zornitza Stark Marked gene: NPHP3 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.3 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.3 NPHP3 Zornitza Stark Classified gene: NPHP3 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.3 NPHP3 Zornitza Stark Gene: nphp3 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.2 UMOD Zornitza Stark Marked gene: UMOD as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.2 UMOD Zornitza Stark Gene: umod has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.2 UMOD Zornitza Stark Classified gene: UMOD as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.2 UMOD Zornitza Stark Gene: umod has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.1 UPK3A Zornitza Stark Marked gene: UPK3A as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.1 UPK3A Zornitza Stark Gene: upk3a has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.1 UPK3A Zornitza Stark Classified gene: UPK3A as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.1 UPK3A Zornitza Stark Gene: upk3a has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 UPK3A Chirag Patel reviewed gene: UPK3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 UMOD Chirag Patel reviewed gene: UMOD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 NPHP3 Chirag Patel reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 LIFR Chirag Patel reviewed gene: LIFR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28334964; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 HOXB6 Chirag Patel reviewed gene: HOXB6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 HOXA4 Chirag Patel reviewed gene: HOXA4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 CTU2 Chirag Patel reviewed gene: CTU2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 FGFR1 Chirag Patel commented on gene: FGFR1: no human evidence in non-syndromic CAKUT
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 FGFR1 Chirag Patel commented on gene: FGFR1
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 CDX2 Chirag Patel reviewed gene: CDX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 WNT4 Zornitza Stark gene: WNT4 was added
gene: WNT4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT4 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 UPK3A Zornitza Stark gene: UPK3A was added
gene: UPK3A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UPK3A was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 UMOD Zornitza Stark gene: UMOD was added
gene: UMOD was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UMOD was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 TRAP1 Zornitza Stark gene: TRAP1 was added
gene: TRAP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAP1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 TNXB Zornitza Stark gene: TNXB was added
gene: TNXB was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNXB was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 TBX18 Zornitza Stark gene: TBX18 was added
gene: TBX18 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX18 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 TBC1D1 Zornitza Stark gene: TBC1D1 was added
gene: TBC1D1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 SRGAP1 Zornitza Stark gene: SRGAP1 was added
gene: SRGAP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SRGAP1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 SOX17 Zornitza Stark gene: SOX17 was added
gene: SOX17 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOX17 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 SLIT2 Zornitza Stark gene: SLIT2 was added
gene: SLIT2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLIT2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 SIX2 Zornitza Stark gene: SIX2 was added
gene: SIX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 ROBO2 Zornitza Stark gene: ROBO2 was added
gene: ROBO2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ROBO2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 RET Zornitza Stark gene: RET was added
gene: RET was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RET was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 PAX2 Zornitza Stark gene: PAX2 was added
gene: PAX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHP3 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 LRIG2 Zornitza Stark gene: LRIG2 was added
gene: LRIG2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRIG2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIFR was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 ITGA8 Zornitza Stark gene: ITGA8 was added
gene: ITGA8 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGA8 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 HPSE2 Zornitza Stark gene: HPSE2 was added
gene: HPSE2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPSE2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 HOXB6 Zornitza Stark gene: HOXB6 was added
gene: HOXB6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXB6 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 HOXA4 Zornitza Stark gene: HOXA4 was added
gene: HOXA4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXA4 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HNF1B was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 GREB1L Zornitza Stark gene: GREB1L was added
gene: GREB1L was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GREB1L was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 GATA3 Zornitza Stark gene: GATA3 was added
gene: GATA3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GATA3 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 FGFR1 Zornitza Stark gene: FGFR1 was added
gene: FGFR1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 FGF8 Zornitza Stark gene: FGF8 was added
gene: FGF8 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF8 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 DSTYK Zornitza Stark gene: DSTYK was added
gene: DSTYK was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSTYK was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 CTU2 Zornitza Stark gene: CTU2 was added
gene: CTU2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTU2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 CHD1L Zornitza Stark gene: CHD1L was added
gene: CHD1L was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD1L was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 CDX2 Zornitza Stark gene: CDX2 was added
gene: CDX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDX2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 BICC1 Zornitza Stark gene: BICC1 was added
gene: BICC1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BICC1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 Zornitza Stark Added panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS