Activity

Date Panel Item Activity
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Primary immunodeficiency v2.0 ZNF341 Owen Siggs gene: ZNF341 was added
gene: ZNF341 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF341 were set to 29907690; 29907691
Phenotypes for gene: ZNF341 were set to Hyper-IgE syndrome
Review for gene: ZNF341 was set to GREEN
Added comment: Ten unrelated families with nonsense or frameshift variants.
Sources: Literature
Primary immunodeficiency v2.0 IL6R Owen Siggs gene: IL6R was added
gene: IL6R was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL6R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL6R were set to 31235509
Phenotypes for gene: IL6R were set to Recurrent infections; Hyper-IgE; Eczema
Review for gene: IL6R was set to GREEN
Added comment: Two unrelated cases with homozygous variants (frameshift or missense) and compelling functional evidence.
Sources: Literature
Primary immunodeficiency v2.0 IL6ST Owen Siggs reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: None; Publications: 28747427, 30309848; Phenotypes: Hyper-IgE syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency v2.0 IL6ST Owen Siggs Deleted their review
Primary immunodeficiency v2.0 IL6ST Owen Siggs gene: IL6ST was added
gene: IL6ST was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL6ST were set to 31235509
Phenotypes for gene: IL6ST were set to Recurrent infections; Abnormal acute-phase responses; Elevated IgE; Eczema; Eosinophilia
Review for gene: IL6ST was set to GREEN
Added comment: Two unrelated cases with homozygous variants (nonsense or missense), with functional evidence of causation.
Sources: Literature
Primary immunodeficiency v2.0 SNORA31 Owen Siggs gene: SNORA31 was added
gene: SNORA31 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNORA31 were set to 31806906
Phenotypes for gene: SNORA31 were set to Herpes simplex encephalitis
Review for gene: SNORA31 was set to GREEN
Added comment: Five unrelated families, four heterozygous variants in small nucleolar RNA gene.
Sources: Literature
Primary immunodeficiency v2.0 PSMB10 Owen Siggs gene: PSMB10 was added
gene: PSMB10 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB10 were set to 31783057
Phenotypes for gene: PSMB10 were set to Proteasome-associated autoinflammatory syndrome
Review for gene: PSMB10 was set to AMBER
Added comment: Single case, homozygous missense variant, good functional experimental support.
Sources: Literature
Multi-organ autoimmune diabetes v1.7 STAT3 Owen Siggs reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25038750, 25359994; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency v2.0 SLC39A7 Owen Siggs gene: SLC39A7 was added
gene: SLC39A7 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A7 were set to 30718914
Phenotypes for gene: SLC39A7 were set to Agammaglobulinemia; B cell deficiency
Review for gene: SLC39A7 was set to GREEN
Added comment: Six individuals from five families with biallelic missense +/- nonsense variants, phenocopied by mouse models.
Sources: Literature
Primary immunodeficiency v2.0 RC3H1 Owen Siggs gene: RC3H1 was added
gene: RC3H1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RC3H1 were set to PMID: 31636267
Phenotypes for gene: RC3H1 were set to Hemophagocytic lymphohistiocytosis
Penetrance for gene: RC3H1 were set to unknown
Added comment: Single case, homozygous nonsense in consanguineous kindred, clinical phenotype resembling HLH (PMID: 31636267). Convincing functional evidence of causation with phenotypic similarities to mouse model. Promote to Green List once second unrelated case identified.
Sources: Literature
Structural eye disease v1.0 MYRF Owen Siggs reviewed gene: MYRF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31048900, 31172260, 31266062, 31700225; Phenotypes: Nanophthalmos, High hyperopia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia or microphthalmia v1.21 MYRF Owen Siggs changed review comment from: Heterozygous variants in same gene also associated with congenital heart defects (hypoplastic left heart syndrome, scimitar syndrome, septal defects, valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia (see 31069960).
Sources: Literature; to: Entry in OMIM (600165) for locus, subsequently ascribed to variants in MYRF in this same family and at least 7 others (PMID: 31048900, 31172260, 31700225, 31266062).

Heterozygous variants in same gene also associated with congenital heart defects (hypoplastic left heart syndrome, scimitar syndrome, septal defects, valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia (see 31069960).
Sources: Literature
Glaucoma (developmental) v1.5 CPAMD8 Owen Siggs gene: CPAMD8 was added
gene: CPAMD8 was added to Glaucoma (developmental). Sources: Literature
Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPAMD8 were set to DOI: 10.1016/j.ophtha.2019.12.024, PMID: 29556725
Phenotypes for gene: CPAMD8 were set to Glaucoma; anterior segment dysgenesis; retinal detachment; cataract
Penetrance for gene: CPAMD8 were set to unknown
Review for gene: CPAMD8 was set to GREEN
Added comment: Biallelic variants associated with autosomal recessive anterior segment dysgenesis (three published pedigrees; PMID: 27839872), or anterior segment dysgenesis with glaucoma (eight published pedigrees; PMID: 29556725, DOI: 10.1016/j.ophtha.2019.12.024).
Sources: Literature
Anophthalmia or microphthalmia v1.21 MYRF Owen Siggs gene: MYRF was added
gene: MYRF was added to Anophthalmia or microphthalmia. Sources: Literature
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYRF were set to PMID: 31048900, 31172260, 31700225
Phenotypes for gene: MYRF were set to Nanophthalmos; high hyperopia
Penetrance for gene: MYRF were set to Complete
Review for gene: MYRF was set to GREEN
Added comment: Heterozygous variants in same gene also associated with congenital heart defects (hypoplastic left heart syndrome, scimitar syndrome, septal defects, valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia (see 31069960).
Sources: Literature
Autism v0.15 CHD1 Aleš Maver reviewed gene: CHD1: Rating: RED; Mode of pathogenicity: None; Publications: 28866611; Phenotypes: autism, speech apraxia, developmental delay, facial dysmorphic features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Kidneyome_SuperPanel_KidGen_VCGS v0.5 Rebecca Foulger Panel types changed to External Diagnostic Lab
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Renal cystic disease_SuperPanel_KidGen_VCGS v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Renal tubulopathies_KidGen_VCGS v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Renal tubulointerstitial disease_KidGen_VCGS v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Renal tubular dysgenesis_VCGS v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Renal macrocystic disease_KidGen_VCGS v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Alport syndrome_VCGS v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Proteinuria_VCGS_KidGen v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Metabolic renal disease_KidGen v0.2 Rebecca Foulger Panel types changed to External Diagnostic Lab
Renal amyloidosis_KidGen_VCGS v0.3 Rebecca Foulger Panel types changed to External Diagnostic Lab
Nephrocalcinosis or nephrolithiasis v2.0 SLC26A1 Zornitza Stark gene: SLC26A1 was added
gene: SLC26A1 was added to Nephrocalcinosis or nephrolithiasis. Sources: Expert list
Mode of inheritance for gene: SLC26A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A1 were set to 27210743; 27210743; 20160351
Phenotypes for gene: SLC26A1 were set to Nephrolithiasis, calcium oxalate, MIM#167030
Review for gene: SLC26A1 was set to GREEN
gene: SLC26A1 was marked as current diagnostic
Added comment: Three unrelated families and a mouse model.
Sources: Expert list
Nephrocalcinosis or nephrolithiasis v2.0 HNF4A Zornitza Stark reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31875549, 24285859, 22802087, 30005691, 28458902; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026; Mode of inheritance: None; Current diagnostic: yes
CAKUT v1.41 WNT5A Zornitza Stark gene: WNT5A was added
gene: WNT5A was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1, MIM#180700
Review for gene: WNT5A was set to GREEN
gene: WNT5A was marked as current diagnostic
Added comment: Renal anomalies in about a quarter.
Sources: Expert list
CAKUT v1.41 VPS33B chirag patel reviewed gene: VPS33B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
CAKUT v1.41 ZIC3 Zornitza Stark gene: ZIC3 was added
gene: ZIC3 was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked, MIM# 314390
Review for gene: ZIC3 was set to GREEN
Added comment: Renal malformations are a feature of VACTERL.
Sources: Expert list
CAKUT v1.41 TBC1D1 chirag patel gene: TBC1D1 was added
gene: TBC1D1 was added to CAKUT. Sources: Literature
Mode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBC1D1 were set to PMID: 26572137
Phenotypes for gene: TBC1D1 were set to CAKUT
Review for gene: TBC1D1 was set to GREEN
Added comment: 1 heterozygous de novo frameshift variant in TBC1D1 in 1 CAKUT.
3 further CAKUT cases with three novel or rare inherited heterozygous TBC1D1 missense variants predicted to be pathogenic. TBC1D1 mutations affected Ser237-phosphorylation or protein stability and thereby act as hypomorphs. Tbc1d1 showed widespread expression in the developing murine urogenital system. A mild CAKUT spectrum phenotype, including anomalies observed in patients carrying TBC1D1 mutations, was found in kidneys of some Tbc1d1 (-/-) mice. Significantly reduced Glut4 levels were detected in kidneys of Tbc1d1 (-/-) mice and the dysplastic kidney of a TBC1D1 mutation carrier versus controls. TBC1D1 and SLC2A4 encoding GLUT4 were highly expressed in human fetal kidney. These data demonstrate heterozygous deactivating TBC1D1 mutations in CAKUT patients with a similar renal and ureteral phenotype, and provide evidence that TBC1D1 mutations may contribute to CAKUT pathogenesis, possibly via a role in glucose homeostasis.
Sources: Literature
CAKUT v1.41 TFAP2A Zornitza Stark gene: TFAP2A was added
gene: TFAP2A was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome, MIM# 113620
Review for gene: TFAP2A was set to GREEN
Added comment: CAKUT is a feature of the phenotype.
Sources: Expert list
CAKUT v1.41 STRA6 Zornitza Stark gene: STRA6 was added
gene: STRA6 was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to Microphthalmia, syndromic 9, MIM# 601186
Review for gene: STRA6 was set to GREEN
Added comment: Renal malformations are part of the phenotype.
Sources: Expert list
CAKUT v1.41 SLIT2 Zornitza Stark reviewed gene: SLIT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026792; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
CAKUT v1.41 SALL4 chirag patel gene: SALL4 was added
gene: SALL4 was added to CAKUT. Sources: Literature
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SALL4 were set to PMID: 20301547
Phenotypes for gene: SALL4 were set to SALL4- related disorders
Added comment: Phenotypes include: Duane-radial ray syndrome / Okihiro syndrome; Acro-renal-ocular syndrome; and SALL4-related Holt-Oram syndrome.

Acro-renal-ocular syndrome is established clinically in individuals with the following:
-Radial ray malformations
-Renal abnormalities that can include mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, and bladder diverticula
-Ocular abnormalities that can include ocular coloboma and Duane anomaly
Sources: Literature
CAKUT v1.41 RRM2B Zornitza Stark reviewed gene: RRM2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
CAKUT v1.41 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive, MIM# 268310
Review for gene: ROR2 was set to GREEN
gene: ROR2 was marked as current diagnostic
Added comment: Although genital abnormalities are a characteristic feature, renal abnormalities described in ~10%
Sources: Expert list
CAKUT v1.41 RPGRIP1L chirag patel reviewed gene: RPGRIP1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
CAKUT v1.41 ROBO2 Zornitza Stark reviewed gene: ROBO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27002985, 24429398, 29194579, 31630547, 27460642; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
CAKUT v1.41 NOTCH2 chirag patel gene: NOTCH2 was added
gene: NOTCH2 was added to CAKUT. Sources: Literature
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NOTCH2 were set to PMID: 22105858
Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2; OMIM #610205
Review for gene: NOTCH2 was set to GREEN
Added comment: Renal abnormalities, both structural (small hyperechoic kidney, ureteropelvic obstruction, renal cysts) and functional (most commonly renal tubular acidosis), are found in 39% of affected individuals (73/187) [Kamath et al 2012b, Romero 2018].

Romero R. The renal sequelae of Alagille Syndrome as a Product of Altered Notch Signaling During Kidney Development. In: Kamath, BM and Loomes, KM, eds. Alagille Syndrome: Pathogenesis and Clinical Management. Cham, Switzerland: Springer Nature Switzerland AG; 2018:103-20.
Sources: Literature
CAKUT v1.41 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NIPBL were set to 8291537
Phenotypes for gene: NIPBL were set to Cornelia de Lange syndrome 1, MIM# 122470
Review for gene: NIPBL was set to GREEN
gene: NIPBL was marked as current diagnostic
Added comment: Renal abnormalities, primarily vesicoureteral reflux, have been reported in 12%
Sources: Expert list
CAKUT v1.41 MYOCD chirag patel gene: MYOCD was added
gene: MYOCD was added to CAKUT. Sources: Literature
Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYOCD were set to PMID: 31513549
Phenotypes for gene: MYOCD were set to Megabladder; congenital heart disease; cardiomyopathy
Review for gene: MYOCD was set to GREEN
Added comment: Four unrelated families. Mono allelic disease in males (megabladder), bi-allelic disease in males and females (megabladder and congenital heart disease). Cosegregation of MYOCD variants with the phenotype in 4 unrelated families by in vitro transactivation studies in which pathogenic variants resulted in abrogated SM gene expression and by the finding of megabladder in 2 distinct mouse models with reduced Myocd activity.
Sources: Literature
CAKUT v1.41 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome, MIM# 212780
Review for gene: LRP4 was set to GREEN
gene: LRP4 was marked as current diagnostic
Added comment: Renal hypoplasia/dysplasia is a recognised feature of this syndrome, and is a feature of the mouse model.
Sources: Expert list
CAKUT v1.41 LIFR chirag patel gene: LIFR was added
gene: LIFR was added to CAKUT. Sources: Literature
Mode of inheritance for gene: LIFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LIFR were set to PMID: 28334964
Phenotypes for gene: LIFR were set to CAKUT
Review for gene: LIFR was set to GREEN
Added comment: 4 unrelated patients with CAKUT, including functional mouse models.

BUT gene also causes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome with biallelic mutations.
Sources: Literature
CAKUT v1.41 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 23535010
Phenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM# 147920
Review for gene: KMT2D was set to GREEN
gene: KMT2D was marked as current diagnostic
Added comment: Renal malformations are part of the phenotype.
Sources: Expert list
CAKUT v1.41 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: KDM6A was set to Other
Publications for gene: KDM6A were set to 23535010
Phenotypes for gene: KDM6A were set to Kabuki syndrome 2, MIM# 300867
Review for gene: KDM6A was set to GREEN
Added comment: Renal malformations are a recognised feature of this syndrome.
Sources: Expert list
CAKUT v1.41 JAG1 chirag patel gene: JAG1 was added
gene: JAG1 was added to CAKUT. Sources: Literature
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to PMID: 22105858
Phenotypes for gene: JAG1 were set to Alagille syndrome 1; OMIM #118450
Review for gene: JAG1 was set to GREEN
Added comment: Renal abnormalities, both structural (small hyperechoic kidney, ureteropelvic obstruction, renal cysts) and functional (most commonly renal tubular acidosis), are found in 39% of affected individuals (73/187) [Kamath et al 2012b, Romero 2018].

Romero R. The renal sequelae of Alagille Syndrome as a Product of Altered Notch Signaling During Kidney Development. In: Kamath, BM and Loomes, KM, eds. Alagille Syndrome: Pathogenesis and Clinical Management. Cham, Switzerland: Springer Nature Switzerland AG; 2018:103-20.
Sources: Literature
CAKUT v1.41 HOXA13 Zornitza Stark gene: HOXA13 was added
gene: HOXA13 was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOXA13 were set to Hand-foot-uterus syndrome, MIM# 140000
Review for gene: HOXA13 was set to GREEN
gene: HOXA13 was marked as current diagnostic
Added comment: CAKUT is a feature of this condition, variable severity.
Sources: Expert list
CAKUT v1.41 GREB1L Zornitza Stark gene: GREB1L was added
gene: GREB1L was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GREB1L were set to 29100091
Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, MIM# 617805
Review for gene: GREB1L was set to GREEN
gene: GREB1L was marked as current diagnostic
Added comment: At least 16 families described, and mouse model supports gene-disease association.
Sources: Expert list
CAKUT v1.41 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1 312870
Review for gene: GPC3 was set to GREEN
gene: GPC3 was marked as current diagnostic
Added comment: Nephromegaly, multicystic kidneys, hydronephrosis, hydroureter, and duplicated ureters are described features of this syndrome.
Sources: Expert list
CAKUT v1.41 FGF20 Zornitza Stark gene: FGF20 was added
gene: FGF20 was added to CAKUT. 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
CAKUT v1.41 FAM58A Zornitza Stark gene: FAM58A was added
gene: FAM58A was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: FAM58A was set to Other
Publications for gene: FAM58A were set to 28225384; 18297069
Phenotypes for gene: FAM58A were set to STAR syndrome, MIM# 300707
Review for gene: FAM58A was set to GREEN
gene: FAM58A was marked as current diagnostic
Added comment: XL-dominant disorder, multiple affected families reported, renal malformation are part of the phenotype. Note deletions and sequence variants reported.
Sources: Expert list
CAKUT v1.41 EXOC3L2 chirag patel gene: EXOC3L2 was added
gene: EXOC3L2 was added to CAKUT. Sources: Literature
Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC3L2 were set to PMID: 30327448, 28749478, 27894351
Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; renal dysplasia; bone marrow failure
Review for gene: EXOC3L2 was set to GREEN
Added comment: Four individuals from two unrelated families with brain, kidney and bone marrow abnormalities; another described as part of fetal autopsy series, and another in a ciliopathy cohort.
Sources: Literature
CAKUT v1.41 DHCR7 Zornitza Stark edited their review of gene: DHCR7: Changed rating: GREEN
CAKUT v1.41 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 3812577; 10069707; 23059950; 9678700
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, MIM# 270400
gene: DHCR7 was marked as current diagnostic
Added comment: Approximately 25% of affected individuals have renal anomalies, most commonly renal hypoplasia or agenesis, renal cortical cysts, hydronephrosis, and structural anomalies of the collecting system [Curry et al 1987, Ryan et al 1998, Kratz & Kelley 1999, Nowaczyk et al 2001].
Sources: Expert list
CAKUT v1.41 CTU2 Zornitza Stark gene: CTU2 was added
gene: CTU2 was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTU2 were set to 27480277; 26633546; 31301155
Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
Review for gene: CTU2 was set to GREEN
gene: CTU2 was marked as current diagnostic
Added comment: Multiple families reported though some share the same founder variant.
Sources: Expert list
CAKUT v1.41 CHD1L Zornitza Stark reviewed gene: CHD1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
CAKUT v1.41 CEP55 Zornitza Stark gene: CEP55 was added
gene: CEP55 was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 30622327
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500
Review for gene: CEP55 was set to GREEN
gene: CEP55 was marked as current diagnostic
Added comment: Three families and a zebrafish model support gene-disease association.
Sources: Expert list
CAKUT v1.41 CENPF Zornitza Stark gene: CENPF was added
gene: CENPF was added to CAKUT. Sources: Expert list
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPF were set to Stromme syndrome, MIM#243605
Review for gene: CENPF was set to GREEN
Added comment: Renal hypodysplasia and hydronephrosis are a feature of this syndrome.
Sources: Expert list
CAKUT v1.41 BMP7 Zornitza Stark gene: BMP7 was added
gene: BMP7 was added to CAKUT. 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; 7590254
Phenotypes for gene: BMP7 were set to CAKUT
Review for gene: BMP7 was set to RED
Added comment: Single patient reported in a large series; mouse model supports pathogenicity.
Sources: Expert list
CAKUT v1.41 BMP4 Zornitza Stark reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30568244, 24131739, 23641053, 19685083; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v2.0 SCUBE3 Eleanor Williams changed review comment from: A variant in this gene has been found in a 100K proband as potentially being the cause of a skeletal dysplasia.; to: A variant in this gene has been found in a 100K proband as potentially being the cause of a skeletal dysplasia.
Skeletal dysplasia v2.0 SCUBE3 Eleanor Williams commented on gene: SCUBE3
Cardiomyopathies - including childhood onset v1.3 PDLIM3 Eleanor Williams Added comment: Comment on publications: Adding PMID: 25163546 Haas et al 2015 Atlas of the clinical genetics of human dilated cardiomyopathy. Reports a frameshift variant in PDLIM3
Cardiomyopathies - including childhood onset v1.3 PDLIM3 Eleanor Williams Publications for gene: PDLIM3 were set to
Hearing loss v2.4 KCNQ4 Ellen McDonagh Tag watchlist was removed from gene: KCNQ4.
Hearing loss v2.4 MITF Ellen McDonagh Tag watchlist was removed from gene: MITF.
Undiagnosed metabolic disorders v1.413 DPM3 Louise Daugherty Tag watchlist was removed from gene: DPM3.
Undiagnosed metabolic disorders v1.413 DPM3 Louise Daugherty commented on gene: DPM3
Undiagnosed metabolic disorders v1.413 ATAD3A Louise Daugherty commented on gene: ATAD3A
Undiagnosed metabolic disorders v1.413 ATAD3A Louise Daugherty Tag watchlist was removed from gene: ATAD3A.
Thoracic aortic aneurysm or dissection v1.112 SMAD2 Louise Daugherty Tag watchlist was removed from gene: SMAD2.
Thoracic aortic aneurysm or dissection v1.112 SMAD2 Louise Daugherty commented on gene: SMAD2
Retinal disorders v2.6 TUB Louise Daugherty commented on gene: TUB
Retinal disorders v2.6 TUB Louise Daugherty Tag watchlist was removed from gene: TUB.
Retinal disorders v2.6 ABCA4 Louise Daugherty Tag watchlist was removed from gene: ABCA4.
Radial dysplasia v1.7 ZIC3 Louise Daugherty commented on gene: ZIC3
Radial dysplasia v1.7 ZIC3 Louise Daugherty Tag watchlist was removed from gene: ZIC3.
Primary lymphoedema v2.0 PTPN14 Louise Daugherty commented on gene: PTPN14
Primary immunodeficiency v2.0 CDCA7 Louise Daugherty Tag watchlist was removed from gene: CDCA7.
Primary immunodeficiency v2.0 CDCA7 Louise Daugherty commented on gene: CDCA7: As a result of watchlist tag audit the watchlist tag was removed from CDCA7- this is now a green gene with sufficient evidence/review
Mitochondrial disorders v2.3 TIMM50 Louise Daugherty Tag watchlist was removed from gene: TIMM50.
Mitochondrial disorders v2.3 TIMM50 Louise Daugherty commented on gene: TIMM50
Mitochondrial disorders v2.3 MTFMT Louise Daugherty Tag watchlist was removed from gene: MTFMT.
Mitochondrial disorders v2.3 MTFMT Louise Daugherty commented on gene: MTFMT
Mitochondrial disorders v2.3 LYRM7 Louise Daugherty Tag watchlist was removed from gene: LYRM7.
Mitochondrial disorders v2.3 LYRM7 Louise Daugherty commented on gene: LYRM7
Mitochondrial disorders v2.3 FDX2 Louise Daugherty Tag watchlist was removed from gene: FDX2.
Mitochondrial disorders v2.3 FDX2 Louise Daugherty commented on gene: FDX2: As a result of watchlist tag audit the watchlist tag was removed from FDX2- this is now a green gene with sufficient evidence/review
Mitochondrial disorders v2.3 COQ9 Louise Daugherty commented on gene: COQ9
Mitochondrial disorders v2.3 ATPAF2 Louise Daugherty commented on gene: ATPAF2
Intellectual disability v3.0 ZSWIM6 Louise Daugherty commented on gene: ZSWIM6
Intellectual disability v3.0 ZSWIM6 Louise Daugherty Tag watchlist was removed from gene: ZSWIM6.
Intellectual disability v3.0 UFM1 Louise Daugherty Tag watchlist was removed from gene: UFM1.
Undiagnosed metabolic disorders v1.413 FMO3 Rebecca Foulger commented on gene: FMO3
Undiagnosed metabolic disorders v1.413 FMO3 Rebecca Foulger Tag treatable tag was added to gene: FMO3.
Intellectual disability v3.0 TRMT1 Louise Daugherty Tag watchlist was removed from gene: TRMT1.
Intellectual disability v3.0 TRMT1 Louise Daugherty commented on gene: TRMT1
Undiagnosed metabolic disorders v1.413 FMO3 Rebecca Foulger Phenotypes for gene: FMO3 were changed from Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) to Trimethylaminuria, 602079
Intellectual disability v3.0 TRAF7 Louise Daugherty Tag watchlist was removed from gene: TRAF7.
Undiagnosed metabolic disorders v1.412 FMO3 Rebecca Foulger Publications for gene: FMO3 were set to 27604308
Intellectual disability v3.0 TRAF7 Louise Daugherty commented on gene: TRAF7
Intellectual disability v3.0 TCF20 Louise Daugherty edited their review of gene: TCF20: Changed rating: GREEN
Intellectual disability v3.0 TCF20 Louise Daugherty Tag watchlist was removed from gene: TCF20.
Intellectual disability v3.0 TCF20 Louise Daugherty commented on gene: TCF20: As a result of watchlist tag audit the watchlist tag was removed from TCF20 this is now a green gene with sufficient evidence/review
Intellectual disability v3.0 SYNJ1 Louise Daugherty Tag watchlist was removed from gene: SYNJ1.
Intellectual disability v3.0 SYNJ1 Louise Daugherty commented on gene: SYNJ1
Intellectual disability v3.0 SLC6A9 Louise Daugherty edited their review of gene: SLC6A9: Changed rating: GREEN
Intellectual disability v3.0 SLC6A9 Louise Daugherty Tag watchlist was removed from gene: SLC6A9.
Intellectual disability v3.0 SLC6A9 Louise Daugherty commented on gene: SLC6A9: As a result of watchlist tag audit the watchlist tag was removed from SLC6A9- this is now a green gene with sufficient evidence/review
Intellectual disability v3.0 SETD1B Louise Daugherty Tag watchlist was removed from gene: SETD1B.
Intellectual disability v3.0 SETD1B Louise Daugherty commented on gene: SETD1B: As a result of watchlist tag audit the watchlist tag was removed from SETD1B- this is now a green gene with sufficient evidence/review
Intellectual disability v3.0 RLIM Louise Daugherty commented on gene: RLIM: As a result of watchlist tag audit the watchlist tag was removed from RLIM- this is now a green gene with sufficient evidence/review
Intellectual disability v3.0 RLIM Louise Daugherty Tag watchlist was removed from gene: RLIM.
Intellectual disability v3.0 MSL3 Louise Daugherty commented on gene: MSL3: As a result of watchlist tag audit the watchlist tag was removed from MSL3- this is now a green gene with sufficient evidence/review
Intellectual disability v3.0 MSL3 Louise Daugherty Tag watchlist was removed from gene: MSL3.
Intellectual disability v3.0 MSL3 Louise Daugherty commented on gene: MSL3: As a result of watchlist tag audit the watchlist tag was removed from MSL3- this is now a green gene with sufficient evidence/review
Intellectual disability v3.0 MED25 Louise Daugherty Tag watchlist was removed from gene: MED25.
Intellectual disability v3.0 MED25 Louise Daugherty commented on gene: MED25: As a result of watchlist tag audit the watchlist tag was removed from MED25- this is now a green gene with sufficient evidence/review
Intellectual disability v3.0 KDM1A Louise Daugherty Tag watchlist was removed from gene: KDM1A.
Intellectual disability v3.0 KDM1A Louise Daugherty commented on gene: KDM1A: As a result of watchlist tag audit the watchlist tag was removed from KDM1A- this is now a green gene with sufficient evidence/review
Intellectual disability v3.0 GRIA2 Louise Daugherty Tag watchlist was removed from gene: GRIA2.
Intellectual disability v3.0 GRIA2 Louise Daugherty commented on gene: GRIA2: As a result of watchlist tag audit the watchlist tag was removed from GRIA2- this is now a green gene with sufficient evidence/review
Intellectual disability v3.0 DLG4 Louise Daugherty Tag watchlist was removed from gene: DLG4.
Intellectual disability v3.0 DLG4 Louise Daugherty commented on gene: DLG4
Intellectual disability v3.0 CTDP1 Louise Daugherty Tag watchlist was removed from gene: CTDP1.
Intellectual disability v3.0 CTDP1 Louise Daugherty commented on gene: CTDP1
Intellectual disability v3.0 CSNK2A1 Louise Daugherty Tag watchlist was removed from gene: CSNK2A1.
Intellectual disability v3.0 CSNK2A1 Louise Daugherty commented on gene: CSNK2A1
Intellectual disability v3.0 CLCN4 Louise Daugherty Tag watchlist was removed from gene: CLCN4.
Intellectual disability v3.0 CLCN4 Louise Daugherty commented on gene: CLCN4
Intellectual disability v3.0 ALG11 Louise Daugherty Tag watchlist was removed from gene: ALG11.
Intellectual disability v3.0 ALG11 Louise Daugherty commented on gene: ALG11
Hypertrophic cardiomyopathy - teen and adult v2.1 JPH2 Louise Daugherty Tag watchlist was removed from gene: JPH2.
Hypertrophic cardiomyopathy - teen and adult v2.1 JPH2 Louise Daugherty commented on gene: JPH2
Hypertrophic cardiomyopathy - teen and adult v2.1 FLNC Louise Daugherty Tag watchlist was removed from gene: FLNC.
Hypertrophic cardiomyopathy - teen and adult v2.1 FLNC Louise Daugherty commented on gene: FLNC
Hereditary spastic paraplegia v1.213 KIF1A Louise Daugherty Tag watchlist was removed from gene: KIF1A.
Hereditary spastic paraplegia v1.213 KIF1A Louise Daugherty commented on gene: KIF1A
Hereditary spastic paraplegia - childhood onset v2.7 KIF1A Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - childhood onset v2.7 KIF1A Louise Daugherty commented on gene: KIF1A: As a result of watchlist tag audit the watchlist tag was removed from KIF1A- this is now a green gene with sufficient evidence/review
Hereditary neuropathy v1.368 SYT2 Louise Daugherty commented on gene: SYT2: As a result of watchlist tag audit the watchlist tag was kept as still relevant to this gene, it was made green on this panel as it represents a broad phenotype
Hereditary neuropathy v1.368 SBF1 Louise Daugherty Tag watchlist was removed from gene: SBF1.
Hereditary neuropathy v1.368 SBF1 Louise Daugherty commented on gene: SBF1: As a result of watchlist tag audit the watchlist tag was removed from SBF1- this is now a green gene with sufficient evidence/review
Growth failure in early childhood v1.3 IGF2 Louise Daugherty Tag watchlist was removed from gene: IGF2.
Growth failure in early childhood v1.3 IGF2 Louise Daugherty commented on gene: IGF2
Genetic epilepsy syndromes v2.0 NPRL2 Louise Daugherty Tag watchlist was removed from gene: NPRL2.
Genetic epilepsy syndromes v2.0 NPRL2 Louise Daugherty commented on gene: NPRL2
Genetic epilepsy syndromes v2.0 KIAA1109 Louise Daugherty Tag watchlist was removed from gene: KIAA1109.
Genetic epilepsy syndromes v2.0 KIAA1109 Louise Daugherty commented on gene: KIAA1109
Genetic epilepsy syndromes v2.0 KCNQ5 Louise Daugherty Tag watchlist was removed from gene: KCNQ5.
Genetic epilepsy syndromes v2.0 KCNQ5 Louise Daugherty commented on gene: KCNQ5
Genetic epilepsy syndromes v2.0 HNRNPR Louise Daugherty Tag watchlist was removed from gene: HNRNPR.
Genetic epilepsy syndromes v2.0 HNRNPR Louise Daugherty commented on gene: HNRNPR
Genetic epilepsy syndromes v2.0 GOT2 Louise Daugherty commented on gene: GOT2
Genetic epilepsy syndromes v2.0 GOT2 Louise Daugherty Tag watchlist was removed from gene: GOT2.
Genetic epilepsy syndromes v2.0 EIF2B3 Louise Daugherty Tag watchlist was removed from gene: EIF2B3.
Genetic epilepsy syndromes v2.0 EIF2B3 Louise Daugherty commented on gene: EIF2B3
Genetic epilepsy syndromes v2.0 EIF2B1 Louise Daugherty Tag watchlist was removed from gene: EIF2B1.
Genetic epilepsy syndromes v2.0 EIF2B1 Louise Daugherty commented on gene: EIF2B1
Genetic epilepsy syndromes v2.0 CSNK2B Louise Daugherty Tag watchlist was removed from gene: CSNK2B.
Genetic epilepsy syndromes v2.0 CSNK2B Louise Daugherty commented on gene: CSNK2B
Genetic epilepsy syndromes v2.0 CNPY3 Louise Daugherty Tag watchlist was removed from gene: CNPY3.
Genetic epilepsy syndromes v2.0 CNPY3 Louise Daugherty commented on gene: CNPY3
Genetic epilepsy syndromes v2.0 ARV1 Louise Daugherty Tag watchlist was removed from gene: ARV1.
Genetic epilepsy syndromes v2.0 ARV1 Louise Daugherty commented on gene: ARV1
Genetic epilepsy syndromes v2.0 AFF3 Louise Daugherty changed review comment from: As a result of watchlist tag audit the watchlist tag was removed from AFF3- this is now a green gene. Preprint information is now available Voisin et al, 2019; to: As a result of watchlist tag audit the watchlist tag was removed from AFF3- this is now a green gene. Preprint information is now available Voisin et al, 2019 https://www.biorxiv.org/content/10.1101/693937v1
Genetic epilepsy syndromes v2.0 AFF3 Louise Daugherty Tag watchlist was removed from gene: AFF3.
Genetic epilepsy syndromes v2.0 AFF3 Louise Daugherty commented on gene: AFF3
Congenital myopathy v2.0 MYPN Louise Daugherty Tag watchlist was removed from gene: MYPN.
Congenital myopathy v2.0 MYPN Louise Daugherty commented on gene: MYPN: As a result of watchlist tag audit the watchlist tag was removed from MYPN- this is now a green gene.
Congenital myopathy v2.0 CCDC78 Louise Daugherty Tag watchlist was removed from gene: CCDC78.
Congenital myopathy v2.0 CCDC78 Louise Daugherty commented on gene: CCDC78: As a result of watchlist tag audit the watchlist tag was removed from CCDC78- this is now a green gene.
Intellectual disability v3.0 VAMP1 Louise Daugherty Tag watchlist was removed from gene: VAMP1.
Intellectual disability v3.0 VAMP1 Louise Daugherty commented on gene: VAMP1: As a result of watchlist tag audit the watchlist tag was removed from VAMP1- this is now a green gene.
Congenital myaesthenic syndrome v2.0 VAMP1 Louise Daugherty Tag watchlist was removed from gene: VAMP1.
Congenital myaesthenic syndrome v2.0 VAMP1 Louise Daugherty commented on gene: VAMP1: As a result of watchlist tag audit the watchlist tag was removed from VAMP1- this is now a green gene.
Congenital adrenal hypoplasia v2.0 SGPL1 Louise Daugherty Tag watchlist was removed from gene: SGPL1.
Congenital adrenal hypoplasia v2.0 SGPL1 Louise Daugherty commented on gene: SGPL1
Cerebellar hypoplasia v1.39 SMPD4 Louise Daugherty Tag watchlist was removed from gene: SMPD4.
Cerebellar hypoplasia v1.39 SMPD4 Louise Daugherty commented on gene: SMPD4: As a result of watchlist tag audit the watchlist tag was removed from SMPD4- this is now a green gene.
Amelogenesis imperfecta v2.0 PEX6 Louise Daugherty Tag watchlist was removed from gene: PEX6.
Amelogenesis imperfecta v2.0 PEX6 Louise Daugherty commented on gene: PEX6
Thoracic aortic aneurysm or dissection v1.112 ADAMTSL4 Ivone Leong Phenotypes for gene: ADAMTSL4 were changed from to Ectopia lentis et pupillae; Ectopia lentis, isolated, autosomal recessive
Thoracic aortic aneurysm or dissection v1.111 ADAMTSL4 Ivone Leong Classified gene: ADAMTSL4 as Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.111 ADAMTSL4 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Green based on expert review from Ellen Thomas (Genomics England Curator).
Thoracic aortic aneurysm or dissection v1.111 ADAMTSL4 Ivone Leong Gene: adamtsl4 has been classified as Green List (High Evidence).
Thoracic aortic aneurysm or dissection v1.110 FLCN Ivone Leong commented on gene: FLCN
Thoracic aortic aneurysm or dissection v1.110 COL1A2 Ivone Leong commented on gene: COL1A2: After consulting with the Genomics England Clinical Team, it was decided that this gene should remain Green on this panel.
Thoracic aortic aneurysm or dissection v1.110 COL1A1 Ivone Leong commented on gene: COL1A1
Congenital hypothyroidism v2.1 TBL1X Ivone Leong Phenotypes for gene: TBL1X were changed from isolated mild-moderate central hypothyroidism to isolated mild-moderate central hypothyroidism; Hypothyroidism, congenital, nongoitrous, 8, 301033
Intellectual disability v3.0 SUPT16H Konstantinos Varvagiannis gene: SUPT16H was added
gene: SUPT16H was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUPT16H were set to http://dx.doi.org/10.1136/jmedgenet-2019-106193
Phenotypes for gene: SUPT16H were set to Global developmental delay; Intellectual disability; Abnormality of the corpus callosum
Penetrance for gene: SUPT16H were set to Complete
Review for gene: SUPT16H was set to AMBER
Added comment: Bina et al (2020 - http://dx.doi.org/10.1136/jmedgenet-2019-106193) report on 4 unrelated individuals with heterozygous SNVs affecting SUPT16H as well as 1 further with microdeletion spanning this gene.

The phenotype consisted of DD with subsequent ID in a subset of them (ages of the cohort: 2y-14y), autistic features in few, abnormalities of the corpus callosum (for 3 with available MRI images), variable gastrointestinal problems in some, and possibly minor dysmorphic features.

SUPT16H encodes a subunit of the FACT (facilitates chromatin transcription) complex, a chromatin-specific factor required for transcription elongation as well as for DNA replication and repair (OMIM citing Belotserkovskaya et al. 2003 - PMID: 12934006). The 2 subunits of the complex [Spt16 (encoded by SUPT16H) and SSRP1] are essential for histone regulation. As the authors note, Spt16 interacts with the histone dimer H2A-H2B during transcription to allow RNA polymerase access to previously coiled DNA [cited PMIDs : 9489704, 10421373 / A recent study by Liu et al 2019 (PMID: 31775157) appears highly relevant].

SUPT16H has a Z-score of 5.1 in gnomAD and a pLI of 1 (%HI of 22.56 in Decipher).

SNVs :
4 de novo missense SNVs were identified following exome sequencing (NM_007192.3:c.484A>G or I162V / L432P / N571S / R734W), all absent from gnomAD and mostly predicted to be deleterious (I162V predicted benign, tolerated, disease-causing by PolyPhen2, SIFT, MutationTaster respectively and had a CADD score of 13.61). Prior work-up for these individuals (incl. CMA in some / MS-MLPA for Angelman s. in 1 / metabolic investigations) had (probably) not revealed an apparent cause, with small CNVs inherited from healthy parents (a 4q13.3 dup / 20q13.2 del - coordinates not provided).

There were no studies performed for the identified variants.

CNVs :
A 5th individual reported by Bina et al was found to harbor a 2.05 Mb 14q11.2 deletion spanning SUPT16H. The specific deletion also spanned CHD8 while the same individual harbored also a 30.17 Mb duplication of 18p11.32q12.1.

CNVs spanning SUPT16H reported to date, also span the (very) proximal CHD8. [Genomic coordinates (GRCh38) for SUPT16H and CHD8 as provided by OMIM : 14:21,351,471-21,384,018 / 14:21,385,198-21,456,122]. Haploinsufficiency of CHD8 is associated with a distinctive syndrome with overgrowth and ID (Douzgou et al 2019 - PMID: 31001818). The phenotype of SUPT16H-CHD8 duplications is discussed in other studies/reviews. [Smol et al 2020 - PMID: 31823155 / Smyk et al 2016 - PMID: 26834018].

Animal models were not commented on by Bina et al (possibly not available for mouse : http://www.informatics.jax.org/marker/MGI:1890948 / https://www.mousephenotype.org/data/genes/MGI:1890948 ).
Sources: Literature
Genetic epilepsy syndromes v2.0 TET3 Konstantinos Varvagiannis gene: TET3 was added
gene: TET3 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: TET3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TET3 were set to https://doi.org/10.1016/j.ajhg.2019.12.007
Phenotypes for gene: TET3 were set to Global developmental delay; Intellectual disability; Macrocephaly; Growth abnormality; Seizures; Autistic behavior; Abnormality of movement; Abnormality of the face
Penetrance for gene: TET3 were set to Complete
Review for gene: TET3 was set to AMBER
Added comment: Beck et al (2020 - DOI: https://doi.org/10.1016/j.ajhg.2019.12.007) report on individuals with monoallelic de novo or biallelic pathogenic TET3 variants.

For both inheritance modes (AR/AD) DD/ID were among the observed features (mild-severe - individuals from families 2, 4 and 6 for whom presence of ID was not commented, relevance to the current panel is suggested from the developmental milestones in the supplement. One individual presented DD without ID). Other features included hypotonia (in 8), ASD/autistic features (in 5), seizures (2 unrelated subjects for each inheritance mode). Postnatal growth abnormalities were observed in many, in most cases involving head size (with/without abnormal stature) and few presented abnormal prenatal growth. Variable movement disorders were observed in some. Some facial features appeared to be more common (eg. long face, tall forehead, etc).

Most were referred for their DD. Extensive prior genetic investigations had (mostly) come out normal (with possible contribution of a 16p11.2 dup in an individual with monoallelic variant or a 16q22 dup in another with biallelic TET3 variants). Monoallelic / biallelic variants in all subjects were identified following exome sequencing.

TET3 encodes a methylcytosine dioxygenase (the TET family consisting of 3 enzymes, TET1, TET2, TET3). These enzymes are involved in DNA demethylation through a series of reactions beginning with the conversion of 5-methyl cytosine [5mc] to 5-hydromethylcytosine [5hmC].

5 individuals from 3 families (1/3 consanguineous) harbored biallelic missense variants. 5 different missense variants were observed. Heterozygous parents appeared to be mildly affected (eg. having learning difficulties, etc).

6 individuals from 5 families harbored monoallelic variants [3 truncating (of which 2 localizing in the last exon), 2 missense SNVs]. In one family the variant was inherited from a similarly affected parent. In all other cases the variant had occured de novo. No additional TET3 variants were identified, with the limitations of WES.

All missense mutations, whether observed in individuals with biallelic or monoallelic variants, were located within the catalytic domain or - for a single variant (NM_001287491.1:c.2254C>T / p.Arg752Cys) - adjacent to it.

Functional studies were carried out only for (all) missense variants observed in individuals with biallelic variants. Conversion of 5mC to 5hmC is the first step in DNA demethylation. In HEK293 cells overexpressing either wt or variants, production of 5hmc was measured. 4/5 missense variants evaluated demonstrated a defect in converting 5mC to 5hmC, Arg752Cys being an exception (as also predicted by its localization).

DD/ID and abnormal growth are also features of disorders of the epigenetic machinery (DNA methylation machinery, histone machinery, chromatin remodelers, other chromatin-associated proteins). Similarly to TET3, both monoallelic and biallelic variants in KDM5B, encoding for another component of the epigenetic machinery, have been identified in individuals with ID.

Mouse models discussed by the authors [several Refs provided though not here reviewed] : The gene has been shown to be highly expressed in oocytes, zygotes and neurons and to play a role in demethylation of the paternal genome after fertilization. (From the MGI: 'mice inheriting a null allele from a germ cell conditional null mother display impaired reprogramming of the paternal genome resulting in reduced embryo viability'). Beck et al also note that Tet3 inhibition or depletion in differentiated neurons can impact synaptic function [PMIDs cited: 25915473, 24757058, 26711116].
Sources: Literature
Intellectual disability v3.0 TET3 Konstantinos Varvagiannis gene: TET3 was added
gene: TET3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TET3 were set to https://doi.org/10.1016/j.ajhg.2019.12.007
Phenotypes for gene: TET3 were set to Global developmental delay; Intellectual disability; Macrocephaly; Growth abnormality; Seizures; Autistic behavior; Abnormality of movement; Abnormality of the face
Penetrance for gene: TET3 were set to Complete
Review for gene: TET3 was set to GREEN
Added comment: Beck et al (2020 - DOI: https://doi.org/10.1016/j.ajhg.2019.12.007) report on individuals with monoallelic de novo or biallelic pathogenic TET3 variants.

For both inheritance modes (AR/AD) DD/ID were among the observed features (mild-severe - individuals from families 2, 4 and 6 for whom presence of ID was not commented, relevance to the current panel is suggested from the developmental milestones in the supplement. One individual presented DD without ID). Other features included hypotonia (in 8), ASD/autistic features (in 5), seizures (2 unrelated subjects for each inheritance mode). Postnatal growth abnormalities were observed in many, in most cases involving head size (with/without abnormal stature) and few presented abnormal prenatal growth. Variable movement disorders were observed in some. Some facial features appeared to be more common (eg. long face, tall forehead, etc).

Most were referred for their DD. Extensive prior genetic investigations had (mostly) come out normal (with possible contribution of a 16p11.2 dup in an individual with monoallelic variant or a 16q22 dup in another with biallelic TET3 variants). Monoallelic / biallelic variants in all subjects were identified following exome sequencing.

TET3 encodes a methylcytosine dioxygenase (the TET family consisting of 3 enzymes, TET1, TET2, TET3). These enzymes are involved in DNA demethylation through a series of reactions beginning with the conversion of 5-methyl cytosine [5mc] to 5-hydromethylcytosine [5hmC].

5 individuals from 3 families (1/3 consanguineous) harbored biallelic missense variants. 5 different missense variants were observed. Heterozygous parents appeared to be mildly affected (eg. having learning difficulties, etc).

6 individuals from 5 families harbored monoallelic variants [3 truncating (of which 2 localizing in the last exon), 2 missense SNVs]. In one family the variant was inherited from a similarly affected parent. In all other cases the variant had occured de novo. No additional TET3 variants were identified, with the limitations of WES.

All missense mutations, whether observed in individuals with biallelic or monoallelic variants, were located within the catalytic domain or - for a single variant (NM_001287491.1:c.2254C>T / p.Arg752Cys) - adjacent to it.

Functional studies were carried out only for (all) missense variants observed in individuals with biallelic variants. Conversion of 5mC to 5hmC is the first step in DNA demethylation. In HEK293 cells overexpressing either wt or variants, production of 5hmc was measured. 4/5 missense variants evaluated demonstrated a defect in converting 5mC to 5hmC, Arg752Cys being an exception (as also predicted by its localization).

DD/ID and abnormal growth are also features of disorders of the epigenetic machinery (DNA methylation machinery, histone machinery, chromatin remodelers, other chromatin-associated proteins). Similarly to TET3, both monoallelic and biallelic variants in KDM5B, encoding for another component of the epigenetic machinery, have been identified in individuals with ID.

Mouse models discussed by the authors [several Refs provided though not here reviewed] : The gene has been shown to be highly expressed in oocytes, zygotes and neurons and to play a role in demethylation of the paternal genome after fertilization. (From the MGI: 'mice inheriting a null allele from a germ cell conditional null mother display impaired reprogramming of the paternal genome resulting in reduced embryo viability'). Beck et al also note that Tet3 inhibition or depletion in differentiated neurons can impact synaptic function [PMIDs cited: 25915473, 24757058, 26711116].
Sources: Literature
Intellectual disability v3.0 PIGP Konstantinos Varvagiannis changed review comment from: Please consider upgrading this gene to Green.

A recent study Vetro et al. (2020 - https://doi.org/10.1212/NXG.0000000000000387) identified 4 additional affected individuals with severe EIEE, belonging to a large inbred family. Following extensive genetic investigations (all of which were non-diagnostic) these subjects were found to harbor in homozygosity the frameshift variant also reported in the 2 previous studies (NM_153681.2:c.456delA / p.Glu153AsnfsTer34 or NM_153682.2:c.384delA / p.Glu129AsnfsTer34). Reduced expression of the GPI-anchor protein CD16 was demonstrated in granulocytes of affected individuals.; to: Please consider upgrading this gene to Green.

In a recent study, Vetro et al. (2020 - https://doi.org/10.1212/NXG.0000000000000387) identified 4 additional affected individuals with severe EIEE, belonging to a large inbred family. Following extensive genetic investigations (all of which were non-diagnostic) these subjects were found to harbor in homozygosity the frameshift variant also reported in the 2 previous studies (NM_153681.2:c.456delA / p.Glu153AsnfsTer34 or NM_153682.2:c.384delA / p.Glu129AsnfsTer34). Reduced expression of the GPI-anchor protein CD16 was demonstrated in granulocytes of affected individuals.
Genetic epilepsy syndromes v2.0 PIGP Konstantinos Varvagiannis edited their review of gene: PIGP: Added comment: Please consider upgrading this gene to Green.

In a recent study, Vetro et al. (2020 - https://doi.org/10.1212/NXG.0000000000000387) identified 4 additional affected individuals with severe EIEE, belonging to a large inbred family. Following extensive genetic investigations (all of which were non-diagnostic) these subjects were found to harbor in homozygosity the frameshift variant also reported in the 2 previous studies (NM_153681.2:c.456delA / p.Glu153AsnfsTer34 or NM_153682.2:c.384delA / p.Glu129AsnfsTer34). Reduced expression of the GPI-anchor protein CD16 was demonstrated in granulocytes of affected individuals.; Changed publications: 28334793, 31139695, https://doi.org/10.1212/NXG.0000000000000387
Intellectual disability v3.0 PIGP Konstantinos Varvagiannis edited their review of gene: PIGP: Added comment: Please consider upgrading this gene to Green.

A recent study Vetro et al. (2020 - https://doi.org/10.1212/NXG.0000000000000387) identified 4 additional affected individuals with severe EIEE, belonging to a large inbred family. Following extensive genetic investigations (all of which were non-diagnostic) these subjects were found to harbor in homozygosity the frameshift variant also reported in the 2 previous studies (NM_153681.2:c.456delA / p.Glu153AsnfsTer34 or NM_153682.2:c.384delA / p.Glu129AsnfsTer34). Reduced expression of the GPI-anchor protein CD16 was demonstrated in granulocytes of affected individuals.; Changed publications: 28334793, 31139695, https://doi.org/10.1212/NXG.0000000000000387
Intellectual disability v3.0 ZNF292 Konstantinos Varvagiannis commented on gene: ZNF292: Correction to the phrase "Manual review of some relevant LoF variants in gnomAD suggested that they represent false positive calls":

Irrespective of the variants identified in their cohort, Mirzaa et al. reviewed many pLoF variants which are listed in gnomAD. The authors suggested that some of these variants may not represent true LoF variants.

Eg. NM_015021.3:c.2690C>A ( https://gnomad.broadinstitute.org/variant/6-87966037-C-A ) which appears to be a stopgain variant (Ser[TCA]>Ter[TAA]) is probably not a true LoF variant. It always occurred in cis (/the same reads) with NM_015021.3:c.2689T>C (Ser[TCA] to Pro[CCA]). This is visible in the IGV graph of gnomAD (url above).

Thus, gnomAD lists 2 single-nucleotide variants affecting the same codon, one next to the other. However, as the 2 SNVs always occurred in cis, this represents a single missense multi-nucleotide variant (Ser[TCA]>Gln[CAA]) [ NM_015021.3(ZNF292_v001):c.2689_2690delinsCA ].

Similar observations were made for other variants seen in gnomAD.
Intellectual disability v3.0 NUS1 Konstantinos Varvagiannis edited their review of gene: NUS1: Added comment: Please consider upgrading this gene (NUS1 is also rated Green in the epilepsy panel).

Den et al (2019 - PMID: 31656175) reported on 2 additional unrelated individuals (aged 17 and 59y) both presenting intellectual disability, epilepsy , involuntary movements, ataxia and scoliosis. Both were found to harbor the same splicing variant in NUS1 (NM_138459.4:c.691+1C>A) following exome sequencing. Using lymphoblastoid cell lines from both individuals it was demonstrated that the variant creates a new splice donor site in exon 3 further creating a new reading frame and producing a premature termination codon [c.601_691del or p.(Arg202Glnfs*9)]. Using cyclohexamide, it was further shown that the mutant mRNA is partially subjected to NMD. [Additional variants identified by exome for the 2 subjects were non diagnostic (/VUS). An SPTAN1 nonsense variant identified in one was inherited from an unaffected parent (dominant-negative mechanism listed in G2P for this gene / in ClinVar all pLoF variants are submitted as VUS)].
-----; Changed rating: GREEN; Changed publications: 25066056, 29100083, 24824130, 30348779, 31656175
Hereditary ataxia v1.205 CACNA2D2 Louise Daugherty Classified gene: CACNA2D2 as Green List (high evidence)
Hereditary ataxia v1.205 CACNA2D2 Louise Daugherty Gene: cacna2d2 has been classified as Green List (High Evidence).
Hereditary ataxia v1.204 CACNA2D2 Louise Daugherty Classified gene: CACNA2D2 as No list
Hereditary ataxia v1.204 CACNA2D2 Louise Daugherty Added comment: Comment on list classification: New gene added to panel by Genomics England clinical team recommendation and upgraded Grey to Green. There is enough evidence to support a Green rating on this panel, confirming biallelic CACNA2D2 variants and pertinent to the corresponding phenotype of Cerebellar anomalies/ataxia/epilepsy/ID.
Hereditary ataxia v1.204 CACNA2D2 Louise Daugherty Gene: cacna2d2 has been removed from the panel.
Hereditary spastic paraplegia v1.213 TFG Louise Daugherty edited their review of gene: TFG: Changed rating: GREEN
Genetic epilepsy syndromes v2.0 CACNA2D2 Louise Daugherty commented on gene: CACNA2D2
Genetic epilepsy syndromes v2.0 CACNA2D2 Louise Daugherty Tag watchlist was removed from gene: CACNA2D2.
Hereditary ataxia v1.203 CACNA2D2 Louise Daugherty Publications for gene: CACNA2D2 were set to PMID: 30410802, PMID: 31402629, PMID: 24358150, PMID: 23339110, PMID: 29997391; PMID : 14660671; PMID: 15331424
Hereditary spastic paraplegia v1.213 TFG Louise Daugherty Classified gene: TFG as Green List (high evidence)
Hereditary spastic paraplegia v1.213 TFG Louise Daugherty Added comment: Comment on list classification: Upgraded gene from Amber to Green due to feedback from Genomics England clinical team, due to re-analysing a few cases for diagnostic discovery there is enough evidence to support a Green rating on this panel.
Hereditary spastic paraplegia v1.213 TFG Louise Daugherty Gene: tfg has been classified as Green List (High Evidence).
Hereditary spastic paraplegia v1.212 TFG Louise Daugherty Phenotypes for gene: TFG were changed from to Hereditary spastic paraplegia - childhood onset; Intellectual disability; Hereditary spastic paraplegia - adult onset; neuropathy
Hereditary spastic paraplegia v1.211 TFG Louise Daugherty Added comment: Comment on publications: added publications to support upgrading from Amber to Green.
Hereditary spastic paraplegia v1.211 TFG Louise Daugherty Publications for gene: TFG were set to Beetz et al. (2013)
Hereditary neuropathy v1.368 AR_CAG Louise Daugherty Classified STR: AR_CAG as Green List (high evidence)
Hereditary neuropathy v1.368 AR_CAG Louise Daugherty Added comment: Comment on list classification: Upgraded STR from Amber to Green due to feedback from Genomics England clinical team, due to re-analysing a few cases for diagnostic discovery there is enough evidence to support a Green rating on this panel.
Hereditary neuropathy v1.368 AR_CAG Louise Daugherty Str: ar_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.367 AR_CAG Louise Daugherty Added comment: Comment on publications: added publications to support upgrading from Amber to Green.
Hereditary neuropathy v1.367 AR_CAG Louise Daugherty Publications for STR: AR_CAG were set to
Thoracic aortic aneurysm or dissection v1.110 ADAMTSL4 Ellen Thomas reviewed gene: ADAMTSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectopia lentis et pupillae, Ectopia lentis, isolated, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism idiopathic v1.2 NDNF Simon Thomas gene: NDNF was added
gene: NDNF was added to Hypogonadotropic hypogonadism idiopathic. Sources: Literature
Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NDNF were set to PMID: 31883645
Phenotypes for gene: NDNF were set to Congenital hypogonadotropic hypogonadism (CHH)
Penetrance for gene: NDNF were set to unknown
Review for gene: NDNF was set to GREEN
gene: NDNF was marked as current diagnostic
Added comment: Messina et al (Am J Hum Genet Jan 2020) screened NDNF (Neuron-Derived Neurotrophic Factor) because, in common with several IHH genes, it contains a fibronectin-3 (FN3) domain.
Three heterozygous protein-truncating variants and one heterozygous missense variant were identified in a cohort of 240 unrelated IHH patients. The authors also provided supporting evidence from animal models.
Sources: Literature
Membranoproliferative glomerulonephritis v2.2 DGKE Daniel Gale reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23274426; Phenotypes: Proteinuria, membranoproliferative glomerulonephritis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Membranoproliferative glomerulonephritis v2.2 CFI Daniel Gale reviewed gene: CFI: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Membranoproliferative glomerulonephritis v2.2 CFH Daniel Gale reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9312129; Phenotypes: C3 glomerulopathy, Membranoproliferative glomerulonephritis, renal insufficiency, proteinuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Membranoproliferative glomerulonephritis v2.2 CFB Daniel Gale reviewed gene: CFB: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 25758434; Phenotypes: C3 glomerulopathy, Membranoproliferative glomerulonephritis, renal insufficiency, proteinuria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Membranoproliferative glomerulonephritis v2.2 C3 Daniel Gale reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 20852386, 26471127; Phenotypes: C3 glomerulopathy, Membranoproliferative glomerulonephritis, renal insufficiency, proteinuria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Haematuria_VCGS_KidGen_1 v0.1 CFHR5 Daniel Gale reviewed gene: CFHR5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 30844074, 30197990, 24067434, 21566112, 20800271, 27490940, 24334459; Phenotypes: Haematuria, renal insufficiency, proteinuria, acute kidney injury, C3 glomerulopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital disorders of glycosylation v2.0 TMEM165 Rebecca Foulger commented on gene: TMEM165
Congenital disorders of glycosylation v2.0 SLC39A8 Rebecca Foulger commented on gene: SLC39A8
Congenital disorders of glycosylation v2.0 SLC35C1 Rebecca Foulger commented on gene: SLC35C1
Congenital disorders of glycosylation v2.0 SLC35A1 Rebecca Foulger Deleted their comment
Congenital disorders of glycosylation v2.0 SLC35A1 Rebecca Foulger commented on gene: SLC35A1: GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=P78382-1
Congenital disorders of glycosylation v2.0 SLC35A1 Rebecca Foulger commented on gene: SLC35A1: GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=P78382-1
Congenital disorders of glycosylation v2.0 SEC23B Rebecca Foulger commented on gene: SEC23B
Congenital disorders of glycosylation v2.0 POMT2 Rebecca Foulger commented on gene: POMT2
Congenital disorders of glycosylation v2.0 POMT1 Rebecca Foulger commented on gene: POMT1
Congenital disorders of glycosylation v2.0 POMGNT1 Rebecca Foulger commented on gene: POMGNT1
Congenital disorders of glycosylation v2.0 PMM2 Rebecca Foulger commented on gene: PMM2
Congenital disorders of glycosylation v2.0 PIGA Rebecca Foulger commented on gene: PIGA
Congenital disorders of glycosylation v2.0 PGM1 Rebecca Foulger commented on gene: PGM1
Congenital disorders of glycosylation v2.0 NGLY1 Rebecca Foulger commented on gene: NGLY1
Congenital disorders of glycosylation v2.0 MOGS Rebecca Foulger commented on gene: MOGS
Congenital disorders of glycosylation v2.0 MGAT2 Rebecca Foulger commented on gene: MGAT2
Congenital disorders of glycosylation v2.0 LARGE1 Rebecca Foulger commented on gene: LARGE1
Congenital disorders of glycosylation v2.0 GNE Rebecca Foulger commented on gene: GNE
Congenital disorders of glycosylation v2.0 GFPT1 Rebecca Foulger commented on gene: GFPT1
Congenital disorders of glycosylation v2.0 GALNT3 Rebecca Foulger commented on gene: GALNT3
Congenital disorders of glycosylation v2.0 FKTN Rebecca Foulger commented on gene: FKTN
Congenital disorders of glycosylation v2.0 FKRP Rebecca Foulger commented on gene: FKRP
Congenital disorders of glycosylation v2.0 EXT2 Rebecca Foulger commented on gene: EXT2
Congenital disorders of glycosylation v2.0 EXT1 Rebecca Foulger commented on gene: EXT1
Congenital disorders of glycosylation v2.0 DPAGT1 Rebecca Foulger commented on gene: DPAGT1
Congenital disorders of glycosylation v2.0 COG8 Rebecca Foulger commented on gene: COG8
Congenital disorders of glycosylation v2.0 COG7 Rebecca Foulger commented on gene: COG7
Congenital disorders of glycosylation v2.0 COG6 Rebecca Foulger commented on gene: COG6
Congenital disorders of glycosylation v2.0 COG5 Rebecca Foulger commented on gene: COG5
Congenital disorders of glycosylation v2.0 COG4 Rebecca Foulger commented on gene: COG4
Congenital disorders of glycosylation v2.0 COG1 Rebecca Foulger commented on gene: COG1
Congenital disorders of glycosylation v2.0 CHSY1 Rebecca Foulger commented on gene: CHSY1
Congenital disorders of glycosylation v2.0 CHST6 Rebecca Foulger commented on gene: CHST6
Congenital disorders of glycosylation v2.0 CHST3 Rebecca Foulger commented on gene: CHST3
Congenital disorders of glycosylation v2.0 CCDC115 Rebecca Foulger commented on gene: CCDC115
Congenital disorders of glycosylation v2.0 B4GALT1 Rebecca Foulger commented on gene: B4GALT1
Congenital disorders of glycosylation v2.0 B3GLCT Rebecca Foulger commented on gene: B3GLCT
Additional findings health related v0.92 APOB Ellen McDonagh Mode of pathogenicity for gene: APOB was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Renal tubulopathies v2.0 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to Renal tubulopathies. Sources: Expert list
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF4A were set to 22802087; 24285859; 30005691; 28458902; 31875549
Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#616026
Review for gene: HNF4A was set to GREEN
gene: HNF4A was marked as current diagnostic
Added comment: Multiple individuals reported.
Sources: Expert list
Atypical haemolytic uraemic syndrome v2.1 CFHR5 Zornitza Stark gene: CFHR5 was added
gene: CFHR5 was added to Atypical haemolytic uraemic syndrome. Sources: Expert list
Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CFHR5 were set to 22622361
Phenotypes for gene: CFHR5 were set to Nephropathy due to CFHR5 deficiency, MIM# 614809
Review for gene: CFHR5 was set to AMBER
Added comment: There is at least one paper specifically linking variants in this gene with aHUS, not quite sure where this gene belongs.
Sources: Expert list
Atypical haemolytic uraemic syndrome v2.1 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to Atypical haemolytic uraemic syndrome. Sources: Expert list
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, MIM# 274150
Review for gene: ADAMTS13 was set to AMBER
Added comment: It is difficult to know whether to include this gene on an aHUS panel; there is considerable overlap in the clinical features between TTP and HUS, and we have included it in ours.
Sources: Expert list
Proteinuric renal disease v2.0 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
Proteinuric renal disease v2.0 PTPRO Zornitza Stark reviewed gene: PTPRO: Rating: AMBER; Mode of pathogenicity: None; Publications: 21722858, 30065916; Phenotypes: Nephrotic syndrome, type 6 #614196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v2.0 KANK2 Zornitza Stark reviewed gene: KANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25961457; Phenotypes: Nephrotic syndrome, type 16, MIM#617783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v2.0 DGKE Zornitza Stark reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542698, 23274426; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v2.0 CD2AP chirag patel Deleted their review
Proteinuric renal disease v2.0 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
Proteinuric renal disease v2.0 CD2AP Zornitza Stark reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: None; Publications: 17713465, 30612599; Phenotypes: Glomerulosclerosis, focal segmental, 3 #607832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v2.0 APOE Zornitza Stark gene: APOE was added
gene: APOE was added to Proteinuric renal disease. 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 10432380; 9176854; 18077821
Phenotypes for gene: APOE were set to Lipoprotein glomerulopathy, MIM# 611771
Review for gene: APOE was set to GREEN
Added comment: Specific variants in Japanese/Chinese linked to the development of a glomerulopathy, characterised by proteinuria, renal failure and deposition of lipoprotein thrombi.
Sources: Expert list
Proteinuric renal disease v2.0 AMN Zornitza Stark reviewed gene: AMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30691194, 26040326; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Palmoplantar keratoderma and erythrokeratodermas v1.17 CTSC Catherine Snow Classified gene: CTSC as Green List (high evidence)
Palmoplantar keratoderma and erythrokeratodermas v1.17 CTSC Catherine Snow Added comment: Comment on list classification: Gene added to panel based on feedback from Genomics England clinician.
Palmoplantar keratoderma and erythrokeratodermas v1.17 CTSC Catherine Snow Gene: ctsc has been classified as Green List (High Evidence).
Palmoplantar keratoderma and erythrokeratodermas v1.16 CTSC Zerin Hyder gene: CTSC was added
gene: CTSC was added to Palmoplantar keratoderma and erythrokeratodermas. Sources: Expert list
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 10581027; 15585850; 11180012; 10662807
Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome; Haim-Munk syndrome; Periodontitis 1, juvenile
Penetrance for gene: CTSC were set to unknown
Review for gene: CTSC was set to GREEN
gene: CTSC was marked as current diagnostic
Added comment: This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group.
CTSC green on GMS panel, upgrade on 100K panel.
Sources: Expert list
Hereditary spastic paraplegia v1.210 TFG Zerin Hyder reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 23479643, 27601211, 28124177, 27492651; Phenotypes: Hereditary spastic paraplegia - childhood onset, Intellectual disability, Hereditary spastic paraplegia - adult onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy v1.366 AR_CAG Zerin Hyder reviewed STR: AR_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 8469342, 15851746, 1449253; Phenotypes: Spinal and bulbar muscular atrophy or Kennedy diseases 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Genetic epilepsy syndromes v2.0 ASTN1 Zornitza Stark gene: ASTN1 was added
gene: ASTN1 was added to Genetic epilepsy syndromes. Sources: Expert list
Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891
Phenotypes for gene: ASTN1 were set to Intellectual disability; epilepsy; cortical malformations
Review for gene: ASTN1 was set to GREEN
gene: ASTN1 was marked as current diagnostic
Added comment: Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation.
Sources: Expert list
Genetic epilepsy syndromes v2.0 ASNS Zornitza Stark gene: ASNS was added
gene: ASNS was added to Genetic epilepsy syndromes. Sources: Expert list
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, MIM# 615574
Review for gene: ASNS was set to GREEN
Added comment: Encephalopathy, including seizures is a feature of this metabolic condition.
Sources: Expert list
Genetic epilepsy syndromes v2.0 APC2 Zornitza Stark reviewed gene: APC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31585108; Phenotypes: Cortical dysplasia, complex, with other brain malformations 10, MIM#618677; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic epilepsy syndromes v2.0 ADRA2B Zornitza Stark reviewed gene: ADRA2B: Rating: RED; Mode of pathogenicity: None; Publications: 24114805, 21937992; Phenotypes: Cortical myoclonus and epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic epilepsy syndromes v2.0 ADAM22 Zornitza Stark gene: ADAM22 was added
gene: ADAM22 was added to Genetic epilepsy syndromes. Sources: Expert list
Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM22 were set to 27066583; 30237576
Phenotypes for gene: ADAM22 were set to Epileptic encephalopathy, early infantile, 61, MIM# 617933
Review for gene: ADAM22 was set to AMBER
Added comment: Two families reported; the second one as part of a large consanguineous cohort.
Sources: Expert list
Thoracic aortic aneurysm or dissection v1.110 CBS Ivone Leong Classified gene: CBS as Amber List (moderate evidence)
Thoracic aortic aneurysm or dissection v1.110 CBS Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber based on evidence provided by expert reviews.
Thoracic aortic aneurysm or dissection v1.110 CBS Ivone Leong Gene: cbs has been classified as Amber List (Moderate Evidence).
Haematuria_VCGS_KidGen_1 v0.1 Rebecca Foulger Panel status changed from internal to public
Panel types changed to External Diagnostic Lab
Haematuria_VCGS_KidGen_1 v0.0 OCRL Rebecca Foulger gene: OCRL was added
gene: OCRL was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: OCRL was set to Unknown
Haematuria_VCGS_KidGen_1 v0.0 NPHS2 Rebecca Foulger gene: NPHS2 was added
gene: NPHS2 was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: NPHS2 was set to Unknown
Haematuria_VCGS_KidGen_1 v0.0 LMX1B Rebecca Foulger gene: LMX1B was added
gene: LMX1B was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: LMX1B was set to Unknown
Haematuria_VCGS_KidGen_1 v0.0 FN1 Rebecca Foulger gene: FN1 was added
gene: FN1 was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: FN1 was set to Unknown
Haematuria_VCGS_KidGen_1 v0.0 CUBN Rebecca Foulger gene: CUBN was added
gene: CUBN was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: CUBN was set to Unknown
Haematuria_VCGS_KidGen_1 v0.0 COL4A2 Rebecca Foulger gene: COL4A2 was added
gene: COL4A2 was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL4A2 were set to Brain small vessel disease 2, MIM#614483
Haematuria_VCGS_KidGen_1 v0.0 CLCN5 Rebecca Foulger gene: CLCN5 was added
gene: CLCN5 was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: CLCN5 was set to Unknown
Haematuria_VCGS_KidGen_1 v0.0 CFHR5 Rebecca Foulger gene: CFHR5 was added
gene: CFHR5 was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: CFHR5 was set to Unknown
Haematuria_VCGS_KidGen_1 v0.0 CFH Rebecca Foulger gene: CFH was added
gene: CFH was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: CFH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CFH were set to Complement factor H deficiency, MIM#609814
Haematuria_VCGS_KidGen_1 v0.0 CD151 Rebecca Foulger gene: CD151 was added
gene: CD151 was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 29138120; 15265795
Phenotypes for gene: CD151 were set to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Haematuria_VCGS_KidGen_1 v0.0 MYH9 Rebecca Foulger gene: MYH9 was added
gene: MYH9 was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYH9 was set to Unknown
Haematuria_VCGS_KidGen_1 v0.0 COL4A5 Rebecca Foulger gene: COL4A5 was added
gene: COL4A5 was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A5 was set to Unknown
Haematuria_VCGS_KidGen_1 v0.0 COL4A4 Rebecca Foulger gene: COL4A4 was added
gene: COL4A4 was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A4 was set to Unknown
Haematuria_VCGS_KidGen_1 v0.0 COL4A3 Rebecca Foulger gene: COL4A3 was added
gene: COL4A3 was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A3 was set to Unknown
Haematuria_VCGS_KidGen_1 v0.0 COL4A1 Rebecca Foulger gene: COL4A1 was added
gene: COL4A1 was added to Haematuria_VCGS_KidGen_1. Sources: Victorian Clinical Genetics Services,Expert list,Expert Review Green
Mode of inheritance for gene: COL4A1 was set to Unknown
Haematuria_VCGS_KidGen_1 v0.0 Rebecca Foulger Added panel Haematuria_VCGS_KidGen_1
Genetic epilepsy syndromes v2.0 RNF113A Konstantinos Varvagiannis gene: RNF113A was added
gene: RNF113A was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RNF113A were set to 25612912; 31880405; 31793730; 29133357; 30506991; 15256591; 24026126; 23555887
Phenotypes for gene: RNF113A were set to ?Trichothiodystrophy 5, nonphotosensitive, 300953
Penetrance for gene: RNF113A were set to Complete
Review for gene: RNF113A was set to GREEN
Added comment: The gene has been reviewed for the ID panel. Seizures have been reported in 4 affected males from 3 families.

From the ID panel:
Nonphotosensitive trichothiodystrophy-5 (TTD5 - #300953) is caused by mutation in the RNF113A gene on Xq24. DD, ID and seizures are part of the phenotype in males. (Several) heterozygous females have not been reported to exhibit these features (DD/ID/seizures) although a single female in the first report had speech/motor delay and learning difficulties.

Corbett et al (2015 - PMID: 25612912) reported on 2 cousins with profound ID and epilepsy among other principal features of the disorder. Linkage analysis (probably low(?) LOD score) localized the gene to a 7.75 Mb region on Xq and subsequent Sanger and exome sequencing identified an RNF113A stopgain variant in both (NM_006978.2:c.901C>T / p.Q301*). Other X-chr variants did not segregate with the disorder. Previously sequencing of other trichothiodystrophy genes (in both) and CMA (X-chromosome BAC array / ISCA CMA) were non-diagnostic. The variant in this family was identified in a previous study (Tarpey et al 2009 - PMID: 19377476) but was 'incorrectly' discarded at the time due to a sequencing error in a control DNA sample (analysis repeated by Corbett et al). The same variant was also reported in 2 fetuses in a later report (PMID: 31793730).

Mendelsohn et al (2019 - PMID: 31880405) reported on 2 unrelated affected males. The 1st presented with severe DD/ID (independent walking at 7y, single words/non-verbal with with special educational needs at 11y), seizures as well as typical features of the disorder. Metabolic work-up (incl. 7-DHCR) and genetic testing (Allagile, PFIC genes, CMA) were non-diagnostic. Duo WES revealed a frameshift variant [c.903_910delGCAGACCCA / p.(Gln302fs*12)] inherited from the mother. Maternal XCI was completely skewed (100:0). The 2nd individual (briefly reported as REQ18-0616 by Monies et al - PMID: 31130284) presented global DD and seizures along with all other core features of the disorder at the age of 16m. Karyotype was normal. Exome revealed a frameshift variant [NM_006978.3:c.897_898delTG / p.(Cys299*)].

Further evidence is based on the role of the RNA113A, being involved in mRNA splicing (/spiceosome function) [Gatti da Silva et al 2018 - PMID: 30506991 & many other Refs] as well in DNA repair (E3 ubiquitin-protein ligase in a mechanism for sensing DNA damage induced by alkylation) [Brickner et al 2017 - PMID: 29133357]. In the latter study, LCLs from individuals harboring Q301* were shown to be hypersensitive to an alkylating agent (MMS) which was also the case for an RNF113A knockdown cell line. The cells had reduced ASCC alkylation repair complex foci formation, which was rescued upon reconstitution of patient cells with wt RNF113A.

Animal models :
Disruption of rnf113a in zebrafish resulted among others in small head and underdeveloped gut (PMID cited : 15256591 - Amsterdam et al) similar to the microcephaly observed in several individuals and/or abnormal gut development/diarrhoea reported in few.
Knockdown of the Drosophila ortholog (mdlc) led to reduced proliferation of neuroblasts. Neuronal differentiation was initiated but not completed. Expression of the full-length human gene rescued the CNS defects (discussed by Mendelsohn et al citing PMID: 24026126 - Carney et al). RNA-seq data from the same study were analyzed by Corbett et al, and differentialy expressed genes were enriched for genes involved in DNA damage response and repair.
Knockdown of RNF-113 in C.elegans sensitises cells to UVA-induced DNA damage. RNF-113 was shown to be involved in interstrand DNA crosslink repair and interact with a RAD51C homolog (PMID cited: 23555887 - Lee et al).

[Please consider upgrade/inclusion in other relevant panels eg. the 'Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome panel' where the gene has red rating].
Sources: Literature
Intellectual disability v3.0 RNF113A Konstantinos Varvagiannis reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25612912, 31880405, 31793730, 29133357, 30506991, 15256591, 24026126, 23555887; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rare multisystem ciliopathy disorders v1.123 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: None; Publications: 30423442; Phenotypes: Joubert syndrome type 22 (JBTS22); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies v1.0 SLC41A1 Zornitza Stark gene: SLC41A1 was added
gene: SLC41A1 was added to Renal ciliopathies. Sources: Expert list
Mode of inheritance for gene: SLC41A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC41A1 were set to 23661805
Phenotypes for gene: SLC41A1 were set to Nephronophthisis
Review for gene: SLC41A1 was set to RED
Added comment: Single family reported, functional data.
Sources: Expert list
Renal ciliopathies v1.0 SCLT1 Zornitza Stark gene: SCLT1 was added
gene: SCLT1 was added to Renal ciliopathies. Sources: Expert list
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 28486600; 30425282; 30237576; 28005958; 24285566
Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome type IX; Senior-Loken syndrome
Review for gene: SCLT1 was set to AMBER
Added comment: Emerging ciliopathy gene, at least one report of renal involvement; mouse model recapitulates phenotype.
Sources: Expert list
Renal ciliopathies v1.0 PDE6D Zornitza Stark reviewed gene: PDE6D: Rating: RED; Mode of pathogenicity: None; Publications: 30423442; Phenotypes: Joubert syndrome 22; Mode of inheritance: None
Renal ciliopathies v1.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Renal ciliopathies. Sources: Expert list
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Review for gene: NEK1 was set to GREEN
Added comment: A ciliopathy with a renal phenotype.
Sources: Expert list
Renal ciliopathies v1.0 KIF14 Zornitza Stark reviewed gene: KIF14: Rating: GREEN; Mode of pathogenicity: None; Publications: 30388224; Phenotypes: Microcephaly, renal hypo/dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Renal ciliopathies v1.0 KIAA0556 Zornitza Stark reviewed gene: KIAA0556: Rating: ; Mode of pathogenicity: None; Publications: 27245168, 26714646; Phenotypes: Joubert syndrome 26; Mode of inheritance: None; Current diagnostic: yes
Renal ciliopathies v1.0 IFT140 chirag patel gene: IFT140 was added
gene: IFT140 was added to Renal ciliopathies. Sources: Expert Review
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT140 were set to PMID: 22503633, 23418020, 29706353
Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM #266920 (aka Mainzer-Saldino syndrome)
Review for gene: IFT140 was set to GREEN
Added comment: Renal ciliopathy gene with phenotype of Mainzer-Saldino syndrome.

Nephronophthisis reported in multiple cases, with functional evidence (Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype).
Sources: Expert Review
Renal ciliopathies v1.0 IFT27 Zornitza Stark reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 30761183; Phenotypes: Bardet-Biedl syndrome 19, MIM# 615996; Mode of inheritance: None
Renal ciliopathies v1.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Renal ciliopathies. Sources: Expert list
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Review for gene: IFT172 was set to GREEN
Added comment: Nephronophthisis is a recognised feature of this ciliopathy.
Sources: Expert list
Renal ciliopathies v1.0 ICK Zornitza Stark reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: None; Publications: 19185282, 27069622; Phenotypes: Endocrine-cerebroosteodysplasia, MIM# 612651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies v1.0 HNF1B Zornitza Stark reviewed gene: HNF1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal ciliopathies v1.0 DHCR7 chirag patel reviewed gene: DHCR7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Renal ciliopathies v1.0 CENPF Zornitza Stark reviewed gene: CENPF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Stromme syndrome, MIM# 243605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies v1.0 ARMC9 Zornitza Stark commented on gene: ARMC9: Gene not associated with a renal phenotype.
Renal ciliopathies v1.0 ALMS1 Zornitza Stark reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies v1.0 ARMC9 Zornitza Stark edited their review of gene: ARMC9: Added comment: Specifically no renal phenotype described with this gene, plus this is a syndromic condition.; Changed rating: RED
Genetic epilepsy syndromes v2.0 MTHFS Konstantinos Varvagiannis gene: MTHFS was added
gene: MTHFS was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332; https://doi.org/10.1007/978-3-642-40337-8_10
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Penetrance for gene: MTHFS were set to Complete
Review for gene: MTHFS was set to GREEN
Added comment: Biallelic pathogenic MTHFS variants cause Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (# 618367).

The gene encodes 5,10-Methenyltetrahydrofolate synthetase which catalyzes conversion of 5-formyltetrahydrofolate (5-FTHF or folinic acid) to 5,10-methenyltetrahydrofolate (5,10-MTHF).

At least 3 unrelated individuals have been reported. The phenotype appears to be relevant to both epilepsy and ID gene panels and the role of variants/the gene supported by enzymatic activity studies, 5-FTHF accumulation, 5,10-MTHF levels (low/low-normal), the role of folate metabolism pathway overall and some supporting (metabolic) evidence from the mouse model.
---
Rodan et al (2018 - PMID: 30031689) reported on 2 individuals both presenting with microcephaly, severe global DD, epilepsy, progressive spasticity and cerebral hypomyelination upon MRI imaging. Short stature was also feature in both.

The 1st patient was an 8-year-old male who following exome sequencing was found to harbor 2 missense variants each inherited from a carrier parent. (NM_006441.3:c.434G>A / p.R145Q and c.107T>C / p.L36P). A further AFG3L2 indel was not felt to fit with his phenotype (and the onset of the related disorder appears to occur later).

Previous investigations included extensive metabolic testing, CMA, Angelman syndrome methylation analysis, GFAP, POLG1, TYMP sequencing, mitochondrial genome analysis and an XL-ID gene panel (further suggesting relevance of this gene to the current panel) were all non-diagnostic.

CSF 5-MTHF levels were initially on the low-normal range, subsequently found to be decreased (upon folinic acid supplementation) and later normalized upon use of another regimen.

MTHFS activity was measured in control fibroblasts as well as fibroblasts from this individual, with the latter demonstrating no enzyme activity. Accumulation (30x elevation) of 5-FTHF (the substrate of MTHFS) was demonstrated in patient fibroblasts.

The 2nd patient was a 11-year-old male with similar features incl. global DD (standing/walking/single words at/after 4 years of age, limited vocabulary and articulation upon last examination).

Extensive metabolic work-up as well as genetic testing for an epilepsy panel, vanishing white matter disease gene panel, mitochondrial genome as well as specific gene sequencing (LAMA2, POLR3A, POLR3B) were all non-diagnostic. Trio exome revealed 2 MTHFS variants in trans configuration (c.484C>T / p.Q162X and c.434G>A / p.R145Q).
---
Romero et al (2019 - PMID: 31844630) reported on a 4-year-old female with congenital microcephaly, severe global DD (nonverbal/nonambulatory at the age of 4), spasticity, epilepsy and cerebral hypomyelination.

Extensive investigations prior to exome sequencing revealed macrocytic anemia, decreased CSF 5-MTHF and elevated neopterin, 2 CNVs of uncertain significance upon CMA with additional long ROH on chr15. Methylation studies were negative. The child was homozygous for c.220C>T / p.R74X (RefSeq is probably NM_006441.3. MTHFS lies on chr15. The parents were unrelated but came from the same town). There were no other candidate variants from the exome analysis.

Both articles discuss extensively the role of the folate metabolism pathway overall in nucleic acid synthesis, AA metabolism, neurotransmitter synthesis, methylation as well as 5-FTHF / 5,10-MTHF in particular in myelin stabilization and DNA synthesis (eg. according to Romero et al. a defect in MTHFS would impair myelin production and also lead to decreased myelin stability).
---
A book chapter cited by Rodan et al (in N. Blau et al. (eds.), Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases - DOI: 10.1007/978-3-642-40337-8_10) included limited details on a patient with 'MTHFS gene mutation'. This individual had early speech delay, seizures beginning in infancy, ID, autistic features, recurrent infections and was found to have very low CSF 5-MTHF levels. [Details in p169 and table 10.6 - p173].
---
In a mouse model reported by Field et al (2011 - PMID: 22303332), Mthfs was disrupted through insertion of a gene trap vector between the first 2 exons. Heterozygous [Mthfs(gt/+)] mice were fertile and viable. Mthfs protein levels were slightly but not statistically significantly reduced in tissues measured. No homozygous embryos were recovered following intercrosses of heterozygous mice, suggesting that Mthfs is an essential gene. Mouse embryonic fibroblasts from heterozygous mice [Mthfs (gt/+)] exhibited reduced de novo purine biosynthesis, but did not exhibit altered de novo thymidylate biosynthesis. Plasma folate levels were altered in heterozygous mice on a standard (/control) diet.

[Please consider inclusion in other possibly relevant panels e.g. for metabolic disorders]
Sources: Literature
Intellectual disability v3.0 MTHFS Konstantinos Varvagiannis changed review comment from: Biallelic pathogenic MTHFS variants cause Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (# 618367).

The gene encodes 5,10-Methenyltetrahydrofolate synthetase which catalyzes conversion of 5-formyltetrahydrofolate (5-FTHF or folinic acid) to 5,10-methenyltetrahydrofolate (5,10-MTHF).

At least 3 unrelated individuals have been reported. The phenotype appears to be relevant to both epilepsy and ID gene panels and the role of variants/the gene supported by enzymatic activity studies, 5-FTHF accumulation, 5,10-MTHF levels (low/low-normal), the role of folate metabolism pathway overall and some supporting (metabolic) evidence from the mouse model.
---
Rodan et al (2018 - PMID: 30031689) reported on 2 individuals both presenting with microcephaly, severe global DD, epilepsy, progressive spasticity and cerebral hypomyelination upon MRI imaging. Short stature was also feature in both.

The 1st patient was an 8-year-old male who following exome sequencing was found to harbor 2 missense variants each inherited from a carrier parent. (NM_006441.3:c.434G>A / p.R145Q and c.107T>C / p.L36P). A further AFG3L2 indel was not felt to fit with his phenotype (and the onset of the related disorder appears to occur later).

Previous investigations included extensive metabolic testing, CMA, Angelman syndrome methylation analysis, GFAP, POLG1, TYMP sequencing, mitochondrial genome analysis and an XL-ID gene panel (further suggesting relevance of this gene to the current panel) were all non-diagnostic.

CSF 5-MTHF levels were initially on the low-normal range, subsequently found to be decreased (upon folinic acid supplementation) and later normalized upon use of another regimen.

MTHFS activity was measured in control fibroblasts as well as fibroblasts from this individual, with the latter demonstrating no enzyme activity. Accumulation (30x elevation) of 5-FTHF (the substrate of MTHFS) was demonstrated in patient fibroblasts.

The 2nd patient was a 11-year-old male with similar features incl. global DD (standing/walking/single words at/after 4 years of age, limited vocabulary and articulation upon last examination).

Extensive metabolic work-up as well as genetic testing for an epilepsy panel, vanishing white matter disease gene panel, mitochondrial genome as well as specific gene sequencing (LAMA2, POLR3A, POLR3B) were all non-diagnostic. Trio exome revealed 2 MTHFS variants in trans configuration (c.484C>T / p.Q162X and c.434G>A / p.R145Q).
---
Romero et al (2019 - PMID: 31844630) reported on a 4-year-old female with congenital microcephaly, severe global DD (nonverbal/nonambulatory at the age of 4), spasticity, epilepsy and cerebral hypomyelination.

Extensive investigations prior to exome sequencing revealed macrocytic anemia, decreased CSF 5-MTHF and elevated neopterin, 2 CNVs of uncertain significance upon CMA with additional long ROH on chr15. Methylation studies were negative. The child was homozygous for c.220C>T / p.R74X (RefSeq is probably NM_006441.3. MTHFS lies on chr15. The parents were unrelated but came from the same town). There were no other candidate variants from the exome analysis.

Both articles discuss extensively the role of the folate metabolism pathway overall in nucleic acid synthesis, AA metabolism, neurotransmitter synthesis, methylation as well as 5-FTHF / 5,10-MTHF in particular in myelin stabilization and DNA synthesis (eg. according to Romero et al. a defect in MTHFS would impair myelin production and also lead to decreased myelin stability).
---
A book chapter cited by Rodan et al (in N. Blau et al. (eds.), Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases - DOI: 10.1007/978-3-642-40337-8_10) included limited details on a patient with 'MTHFS gene mutation'. This individual had early speech delay, seizures beginning in infancy, ID, autistic features, recurrent infections and was found to have very low CSF 5-MTHF levels. [Details in p169 and table 10.6 - p173].
---
In a mouse model reported by Field et al (2011 - PMID: 22303332), Mthfs was disrupted through insertion of a gene trap vector between the first 2 exons. Heterozygous [Mthfs(gt/+)] mice were fertile and viable. Mthfs protein levels were slightly but not statistically significantly reduced in tissues measured. No homozygous embryos were recovered following intercrosses of heterozygous mice, suggesting that Mthfs is an essential gene. Mouse embryonic fibroblasts from heterozygous mice [Mthfs (gt/+)] exhibited reduced de novo purine biosynthesis, but did not exhibit altered de novo thymidylate biosynthesis. Plasma folate levels were altered in heterozygous mice on a standard (/control) diet.
Sources: Literature; to: Biallelic pathogenic MTHFS variants cause Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (# 618367).

The gene encodes 5,10-Methenyltetrahydrofolate synthetase which catalyzes conversion of 5-formyltetrahydrofolate (5-FTHF or folinic acid) to 5,10-methenyltetrahydrofolate (5,10-MTHF).

At least 3 unrelated individuals have been reported. The phenotype appears to be relevant to both epilepsy and ID gene panels and the role of variants/the gene supported by enzymatic activity studies, 5-FTHF accumulation, 5,10-MTHF levels (low/low-normal), the role of folate metabolism pathway overall and some supporting (metabolic) evidence from the mouse model.
---
Rodan et al (2018 - PMID: 30031689) reported on 2 individuals both presenting with microcephaly, severe global DD, epilepsy, progressive spasticity and cerebral hypomyelination upon MRI imaging. Short stature was also feature in both.

The 1st patient was an 8-year-old male who following exome sequencing was found to harbor 2 missense variants each inherited from a carrier parent. (NM_006441.3:c.434G>A / p.R145Q and c.107T>C / p.L36P). A further AFG3L2 indel was not felt to fit with his phenotype (and the onset of the related disorder appears to occur later).

Previous investigations included extensive metabolic testing, CMA, Angelman syndrome methylation analysis, GFAP, POLG1, TYMP sequencing, mitochondrial genome analysis and an XL-ID gene panel (further suggesting relevance of this gene to the current panel) were all non-diagnostic.

CSF 5-MTHF levels were initially on the low-normal range, subsequently found to be decreased (upon folinic acid supplementation) and later normalized upon use of another regimen.

MTHFS activity was measured in control fibroblasts as well as fibroblasts from this individual, with the latter demonstrating no enzyme activity. Accumulation (30x elevation) of 5-FTHF (the substrate of MTHFS) was demonstrated in patient fibroblasts.

The 2nd patient was a 11-year-old male with similar features incl. global DD (standing/walking/single words at/after 4 years of age, limited vocabulary and articulation upon last examination).

Extensive metabolic work-up as well as genetic testing for an epilepsy panel, vanishing white matter disease gene panel, mitochondrial genome as well as specific gene sequencing (LAMA2, POLR3A, POLR3B) were all non-diagnostic. Trio exome revealed 2 MTHFS variants in trans configuration (c.484C>T / p.Q162X and c.434G>A / p.R145Q).
---
Romero et al (2019 - PMID: 31844630) reported on a 4-year-old female with congenital microcephaly, severe global DD (nonverbal/nonambulatory at the age of 4), spasticity, epilepsy and cerebral hypomyelination.

Extensive investigations prior to exome sequencing revealed macrocytic anemia, decreased CSF 5-MTHF and elevated neopterin, 2 CNVs of uncertain significance upon CMA with additional long ROH on chr15. Methylation studies were negative. The child was homozygous for c.220C>T / p.R74X (RefSeq is probably NM_006441.3. MTHFS lies on chr15. The parents were unrelated but came from the same town). There were no other candidate variants from the exome analysis.

Both articles discuss extensively the role of the folate metabolism pathway overall in nucleic acid synthesis, AA metabolism, neurotransmitter synthesis, methylation as well as 5-FTHF / 5,10-MTHF in particular in myelin stabilization and DNA synthesis (eg. according to Romero et al. a defect in MTHFS would impair myelin production and also lead to decreased myelin stability).
---
A book chapter cited by Rodan et al (in N. Blau et al. (eds.), Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases - DOI: 10.1007/978-3-642-40337-8_10) included limited details on a patient with 'MTHFS gene mutation'. This individual had early speech delay, seizures beginning in infancy, ID, autistic features, recurrent infections and was found to have very low CSF 5-MTHF levels. [Details in p169 and table 10.6 - p173].
---
In a mouse model reported by Field et al (2011 - PMID: 22303332), Mthfs was disrupted through insertion of a gene trap vector between the first 2 exons. Heterozygous [Mthfs(gt/+)] mice were fertile and viable. Mthfs protein levels were slightly but not statistically significantly reduced in tissues measured. No homozygous embryos were recovered following intercrosses of heterozygous mice, suggesting that Mthfs is an essential gene. Mouse embryonic fibroblasts from heterozygous mice [Mthfs (gt/+)] exhibited reduced de novo purine biosynthesis, but did not exhibit altered de novo thymidylate biosynthesis. Plasma folate levels were altered in heterozygous mice on a standard (/control) diet.

[Please consider inclusion in other possibly relevant panels e.g. for metabolic disorders]
Sources: Literature
Intellectual disability v3.0 MTHFS Konstantinos Varvagiannis gene: MTHFS was added
gene: MTHFS was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFS were set to 30031689; 31844630; 22303332; https://doi.org/10.1007/978-3-642-40337-8_10
Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367
Penetrance for gene: MTHFS were set to Complete
Review for gene: MTHFS was set to GREEN
Added comment: Biallelic pathogenic MTHFS variants cause Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination (# 618367).

The gene encodes 5,10-Methenyltetrahydrofolate synthetase which catalyzes conversion of 5-formyltetrahydrofolate (5-FTHF or folinic acid) to 5,10-methenyltetrahydrofolate (5,10-MTHF).

At least 3 unrelated individuals have been reported. The phenotype appears to be relevant to both epilepsy and ID gene panels and the role of variants/the gene supported by enzymatic activity studies, 5-FTHF accumulation, 5,10-MTHF levels (low/low-normal), the role of folate metabolism pathway overall and some supporting (metabolic) evidence from the mouse model.
---
Rodan et al (2018 - PMID: 30031689) reported on 2 individuals both presenting with microcephaly, severe global DD, epilepsy, progressive spasticity and cerebral hypomyelination upon MRI imaging. Short stature was also feature in both.

The 1st patient was an 8-year-old male who following exome sequencing was found to harbor 2 missense variants each inherited from a carrier parent. (NM_006441.3:c.434G>A / p.R145Q and c.107T>C / p.L36P). A further AFG3L2 indel was not felt to fit with his phenotype (and the onset of the related disorder appears to occur later).

Previous investigations included extensive metabolic testing, CMA, Angelman syndrome methylation analysis, GFAP, POLG1, TYMP sequencing, mitochondrial genome analysis and an XL-ID gene panel (further suggesting relevance of this gene to the current panel) were all non-diagnostic.

CSF 5-MTHF levels were initially on the low-normal range, subsequently found to be decreased (upon folinic acid supplementation) and later normalized upon use of another regimen.

MTHFS activity was measured in control fibroblasts as well as fibroblasts from this individual, with the latter demonstrating no enzyme activity. Accumulation (30x elevation) of 5-FTHF (the substrate of MTHFS) was demonstrated in patient fibroblasts.

The 2nd patient was a 11-year-old male with similar features incl. global DD (standing/walking/single words at/after 4 years of age, limited vocabulary and articulation upon last examination).

Extensive metabolic work-up as well as genetic testing for an epilepsy panel, vanishing white matter disease gene panel, mitochondrial genome as well as specific gene sequencing (LAMA2, POLR3A, POLR3B) were all non-diagnostic. Trio exome revealed 2 MTHFS variants in trans configuration (c.484C>T / p.Q162X and c.434G>A / p.R145Q).
---
Romero et al (2019 - PMID: 31844630) reported on a 4-year-old female with congenital microcephaly, severe global DD (nonverbal/nonambulatory at the age of 4), spasticity, epilepsy and cerebral hypomyelination.

Extensive investigations prior to exome sequencing revealed macrocytic anemia, decreased CSF 5-MTHF and elevated neopterin, 2 CNVs of uncertain significance upon CMA with additional long ROH on chr15. Methylation studies were negative. The child was homozygous for c.220C>T / p.R74X (RefSeq is probably NM_006441.3. MTHFS lies on chr15. The parents were unrelated but came from the same town). There were no other candidate variants from the exome analysis.

Both articles discuss extensively the role of the folate metabolism pathway overall in nucleic acid synthesis, AA metabolism, neurotransmitter synthesis, methylation as well as 5-FTHF / 5,10-MTHF in particular in myelin stabilization and DNA synthesis (eg. according to Romero et al. a defect in MTHFS would impair myelin production and also lead to decreased myelin stability).
---
A book chapter cited by Rodan et al (in N. Blau et al. (eds.), Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases - DOI: 10.1007/978-3-642-40337-8_10) included limited details on a patient with 'MTHFS gene mutation'. This individual had early speech delay, seizures beginning in infancy, ID, autistic features, recurrent infections and was found to have very low CSF 5-MTHF levels. [Details in p169 and table 10.6 - p173].
---
In a mouse model reported by Field et al (2011 - PMID: 22303332), Mthfs was disrupted through insertion of a gene trap vector between the first 2 exons. Heterozygous [Mthfs(gt/+)] mice were fertile and viable. Mthfs protein levels were slightly but not statistically significantly reduced in tissues measured. No homozygous embryos were recovered following intercrosses of heterozygous mice, suggesting that Mthfs is an essential gene. Mouse embryonic fibroblasts from heterozygous mice [Mthfs (gt/+)] exhibited reduced de novo purine biosynthesis, but did not exhibit altered de novo thymidylate biosynthesis. Plasma folate levels were altered in heterozygous mice on a standard (/control) diet.
Sources: Literature
Cardiomyopathies - including childhood onset v1.1 CACNA1C Ivone Leong Added comment: Comment on mode of inheritance: MOI has been corrected.
Cardiomyopathies - including childhood onset v1.1 CACNA1C Ivone Leong Mode of inheritance for gene: CACNA1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hearing loss v2.4 WBP2 Zornitza Stark gene: WBP2 was added
gene: WBP2 was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP2 were set to 26881968
Phenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM#617639
Review for gene: WBP2 was set to AMBER
Added comment: Two unrelated families identified in a large cohort; supportive animal model data.
Sources: Expert list
Hearing loss v2.4 TOP2B Zornitza Stark gene: TOP2B was added
gene: TOP2B was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: TOP2B were set to 31198993
Phenotypes for gene: TOP2B were set to Deafness, autosomal dominant
Added comment: One multigenerational family where variant in this gene segregated with deafness; two additional variants identified in a cohort; supportive animal model data.
Sources: Expert list
Hearing loss v2.4 TMTC2 Zornitza Stark gene: TMTC2 was added
gene: TMTC2 was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: TMTC2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: TMTC2 were set to 29671961; 27311106
Phenotypes for gene: TMTC2 were set to Deafness
Review for gene: TMTC2 was set to AMBER
Added comment: Two unrelated families reported, no functional evidence.
Sources: Expert list
Hearing loss v2.4 SPNS2 Zornitza Stark gene: SPNS2 was added
gene: SPNS2 was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPNS2 were set to 30973865; 25356849
Phenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM#618457
Review for gene: SPNS2 was set to AMBER
Added comment: Single family reported, mouse model shows progressive hearing loss.
Sources: Expert list
Hearing loss v2.4 SPATC1L Zornitza Stark gene: SPATC1L was added
gene: SPATC1L was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: SPATC1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPATC1L were set to 30177775
Phenotypes for gene: SPATC1L were set to Deafness
Added comment: Two families with compound het variants, and one family with heterozygous variant and dominant pattern of inheritance described, some functional data.
Sources: Expert list
Hearing loss v2.4 ROR1 Zornitza Stark gene: ROR1 was added
gene: ROR1 was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: ROR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROR1 were set to 27162350
Phenotypes for gene: ROR1 were set to Deafness, autosomal recessive 108, MIM#617654
Review for gene: ROR1 was set to AMBER
Added comment: Single family, homozygous missense variant in sibs; mouse model.
Sources: Expert list
Hearing loss v2.4 PPIP5K2 Zornitza Stark gene: PPIP5K2 was added
gene: PPIP5K2 was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIP5K2 were set to 29590114
Phenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM#618422
Review for gene: PPIP5K2 was set to AMBER
Added comment: Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model.
Sources: Expert list
Hearing loss v2.4 PLS1 Zornitza Stark gene: PLS1 was added
gene: PLS1 was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLS1 were set to 31397523; 31432506; 30872814
Phenotypes for gene: PLS1 were set to Deafness
Review for gene: PLS1 was set to GREEN
gene: PLS1 was marked as current diagnostic
Added comment: non-syndromic deafness in 5 families with mono-allelic variants in this gene, and a mouse model.
Sources: Expert list
Hearing loss v2.4 NARS2 Zornitza Stark reviewed gene: NARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25807530, 28077841, 30327238, 25385316; Phenotypes: Deafness, autosomal recessive 94, MIM#618434, Combined oxidative phosphorylation deficiency 24, MIM#616239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hearing loss v2.4 MPZL2 Zornitza Stark gene: MPZL2 was added
gene: MPZL2 was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPZL2 were set to 29982980; 29961571
Phenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111, MIM#618145
Review for gene: MPZL2 was set to GREEN
Added comment: 16 individuals from 6 unrelated consanguineous families reported with bi-allelic variants in this gene.
Sources: Expert list
Hearing loss v2.4 LMX1A Zornitza Stark reviewed gene: LMX1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 29754270, 29971487; Phenotypes: Deafness, autosomal recessive and autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hearing loss v2.4 HOMER2 Zornitza Stark gene: HOMER2 was added
gene: HOMER2 was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: HOMER2 were set to 25816005; 30047143; 25816005
Phenotypes for gene: HOMER2 were set to Deafness, autosomal dominant 68, MIM#616707
Review for gene: HOMER2 was set to GREEN
gene: HOMER2 was marked as current diagnostic
Added comment: Two families reported and a mouse model.
Sources: Expert list
Hearing loss v2.4 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21464306, 27650058, 31827252, 31486067; Phenotypes: Perrault syndrome, deafness, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hearing loss v2.4 GJB6 Zornitza Stark reviewed gene: GJB6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hearing loss v2.4 GJB3 Zornitza Stark reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: 9843210; Phenotypes: Deafness, autosomal dominant 2B, MIM#612644; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Hearing loss v2.4 EPS8L2 Zornitza Stark gene: EPS8L2 was added
gene: EPS8L2 was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPS8L2 were set to 26282398; 2391890; 28281779
Phenotypes for gene: EPS8L2 were set to Deafness, autosomal recessive 106, MIM#617637
Review for gene: EPS8L2 was set to GREEN
gene: EPS8L2 was marked as current diagnostic
Added comment: Two unrelated families and a mouse model.
Sources: Expert list
Hearing loss v2.4 ELMOD3 Zornitza Stark reviewed gene: ELMOD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 240396609, 31628468, 30284680, 29713870; Phenotypes: Deafness, autosomal recessive 88, MIM#615429, Deafness, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hearing loss v2.4 DMXL2 Zornitza Stark reviewed gene: DMXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31688942; Phenotypes: Epileptic encephalopathy with deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hearing loss v2.4 COL4A6 Zornitza Stark reviewed gene: COL4A6: Rating: RED; Mode of pathogenicity: None; Publications: 23714752; Phenotypes: Deafness, X-linked 6, MIM#300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hearing loss v2.4 CDC14A Zornitza Stark gene: CDC14A was added
gene: CDC14A was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC14A were set to 29293958; 27259055
Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM#608653
Review for gene: CDC14A was set to GREEN
gene: CDC14A was marked as current diagnostic
Added comment: Multiple affected individuals from unrelated families reported, plus animal model data. Likely to present with apparently isolated deafness in children.
Sources: Expert list
Hearing loss v2.4 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Hearing loss. Sources: Expert list
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 25986071
Phenotypes for gene: AIFM1 were set to Deafness, X-linked 5, MIM#300614
Review for gene: AIFM1 was set to GREEN
Added comment: More than 10 unrelated families described.
Sources: Expert list
Genetic epilepsy syndromes v2.0 PUM1 Konstantinos Varvagiannis gene: PUM1 was added
gene: PUM1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PUM1 were set to 29474920; 30903679; 31859446
Phenotypes for gene: PUM1 were set to Global developmental delay; Intellectual disability; Seizures; Abnormality of the face; Ataxia; Cryptorchidism
Penetrance for gene: PUM1 were set to unknown
Review for gene: PUM1 was set to GREEN
Added comment: 5 unrelated individuals with de novo pathogenic PUM1 variants have been reported in the literature. DD (5/5), ID (4/5 - relevant severity to the current panel), seizures (4/4 - absence/tonic-clonic, abnormal EEG) and variable other features (incl. facial dysmorphism, ataxia, cryptorchidism) appear to be part of the phenotype. 9 individuals with deletions spanning PUM1 and proximal genes presented similar features.

[1] PMID: 29474920 - Gennarino et al (2018)
[2] PMID: 30903679 - Bonnemason-Carrere et al (2019)
[3] PMID: 31859446 - Voet et al (2019) [with review of the literature]

SNVs in relevant individuals were identified by exome sequencing and were in all cases de novo.

Arg1147Trp was a recurrent variant reported in 3 unrelated subjects with ID and seizures (Refs 1,2,3 / NM_001020658.1:c.3439C>T). A nonsense variant was reported in an additional one with DD, ID, seizures and additional features (c.2509C>T / p.Arg837* - Ref3). One individual with a de novo missense variant (c.3416G>A / p.Arg1139Trp) with DD and ataxia, though without ID was reported in Ref1.

Details on 9 individuals with 0.3 - 5.6 Mb deletions spanning PUM1 and other genes are provided in Ref1. Features also included DD, ID, seizures, ataxia, etc.

Extensive initial investigations were reported for individuals in Refs 2 and 3 (various investigations incl. karyotype, SNP-array, targeted sequencing of OPHN1, KANSL1 or of a small panel of ID genes, biopsies and/or metabolic work-up) to rule out alternative causes. These only revealed a likely benign CNV and a GRIA3 SNV of uncertain significance in the case of an individual harboring the recurrent Arg1147Trp variant [Ref2].

Role of the gene (from OMIM):
Pumilio proteins, such as PUM1, negatively regulate gene expression by repressing translation of mRNAs to which they bind (Lee et al., 2016). A clinically significant PUM1 target is ataxin (ATXN1; 601556), mutation in which causes spinocerebellar ataxia-1 (SCA1; 601556).

Variant studies:
- Arg1147Trp was shown to be associated with normal PUM1 mRNA levels, but reduced (to ~43%) PUM1 protein levels in patient fibroblasts. ATXN1 mRNA and protein levels, as well as protein and/or mRNA levels of other PUM1 targets were shown to be increased (Ref1).
- In Ref1, in vitro transfection assays with wt or mt PUM1 were performed in HEK293T cells to evaluate repression of ATXN1 and E2F3. While overexpression of wt and Arg1147Trp were able to reduce ATXN1 and E2F3 levels, Arg1139Trp was not able to repress ATXN1 or E2F3.
- Upon overexpression in mouse hippocampal neurons, PUM1 missense mutations (among others Arg1139Trp and Arg1147Trp) were shown to alter neuronal morphology.

Overall haploinsufficiency is the proposed mechanism for the disorder for which the acronym PADDAS is used (Pumilio1-associated developmental disability, ataxia and seizure).

Milder mutations reducing PUM1 levels by 25% are associated with adult-onset ataxia without ID (PRCA or Pumilio1-related cerebellar ataxia) [Ref1].

Mouse models:
The role of PUM1 was first suggested in mouse models where Pum1 mutations were shown to lead to a SCA1-like phenotype (PMID cited : 12086639 - Watase et al 2002) further shown to be caused by increased Atxn1 mRNA and protein levels (PMID cited : 25768905 - Gennarino et al 2015).
The mouse model seems to recapitulate several of the features observed in affected individuals : Pum1 homozygous ko mice display among others hyperactivity, progressive cerebellar signs, spontaneous seizures as also observed in affected individuals (PMID cited : 25768905 - Gennarino et al 2015). Cryptorchidism was observed in 2 patients similar to testicular hypoplasia reported in Pum1 ko mice (PMID cited : 22342750 - Chen et al 2012).
- Heterozygous mice were evaluated in Ref1 with 69% or 75% exhibiting spontaneous seizures by the end of 30 or 35 wks respectively, with abnormal EEG activity already by 16 wks.

Additional individuals with PUM1 variants and a relevant phenotype of ID with or without seizures have been reported as part of the DDD study or as external submissions to Decipher and ClinVar :

https://decipher.sanger.ac.uk/search?q=PUM1#research-variants/results [ DDD4K.01387 participant ]
https://decipher.sanger.ac.uk/search?q=pum1#consented-patients/results [ external submission(s) ]
https://www.ncbi.nlm.nih.gov/clinvar/variation/431110/ [ splice-site variant in an individual with ID submitted prior to the 1st publication on the disorder ]
Sources: Literature
Intellectual disability v3.0 PUM1 Konstantinos Varvagiannis commented on gene: PUM1: 5 unrelated individuals with de novo pathogenic PUM1 variants have been reported in the literature. DD (5/5), ID (4/5 - relevant severity to the current panel), seizures (4/4 - absence/tonic-clonic, abnormal EEG) and variable other features (incl. facial dysmorphism, ataxia, cryptorchidism) appear to be part of the phenotype. 9 individuals with deletions spanning PUM1 and proximal genes presented similar features.

[1] PMID: 29474920 - Gennarino et al (2018)
[2] PMID: 30903679 - Bonnemason-Carrere et al (2019)
[3] PMID: 31859446 - Voet et al (2019) [with review of the literature]

SNVs in relevant individuals were identified by exome sequencing and were in all cases de novo.

Arg1147Trp was a recurrent variant reported in 3 unrelated subjects with ID and seizures (Refs 1,2,3 / NM_001020658.1:c.3439C>T). A nonsense variant was reported in an additional one with DD, ID, seizures and additional features (c.2509C>T / p.Arg837* - Ref3). One individual with a de novo missense variant (c.3416G>A / p.Arg1139Trp) with DD and ataxia, though without ID was reported in Ref1.

Details on 9 individuals with 0.3 - 5.6 Mb deletions spanning PUM1 and other genes are provided in Ref1. Features also included DD, ID, seizures, ataxia, etc.

Extensive initial investigations were reported for individuals in Refs 2 and 3 (various investigations incl. karyotype, SNP-array, targeted sequencing of OPHN1, KANSL1 or of a small panel of ID genes, biopsies and/or metabolic work-up) to rule out alternative causes. These only revealed a likely benign CNV and a GRIA3 SNV of uncertain significance in the case of an individual harboring the recurrent Arg1147Trp variant [Ref2].

Role of the gene (from OMIM):
Pumilio proteins, such as PUM1, negatively regulate gene expression by repressing translation of mRNAs to which they bind (Lee et al., 2016). A clinically significant PUM1 target is ataxin (ATXN1; 601556), mutation in which causes spinocerebellar ataxia-1 (SCA1; 601556).

Variant studies:
- Arg1147Trp was shown to be associated with normal PUM1 mRNA levels, but reduced (to ~43%) PUM1 protein levels in patient fibroblasts. ATXN1 mRNA and protein levels, as well as protein and/or mRNA levels of other PUM1 targets were shown to be increased (Ref1).
- In Ref1, in vitro transfection assays with wt or mt PUM1 were performed in HEK293T cells to evaluate repression of ATXN1 and E2F3. While overexpression of wt and Arg1147Trp were able to reduce ATXN1 and E2F3 levels, Arg1139Trp was not able to repress ATXN1 or E2F3.
- Upon overexpression in mouse hippocampal neurons, PUM1 missense mutations (among others Arg1139Trp and Arg1147Trp) were shown to alter neuronal morphology.

Overall haploinsufficiency is the proposed mechanism for the disorder for which the acronym PADDAS is used (Pumilio1-associated developmental disability, ataxia and seizure).

Milder mutations reducing PUM1 levels by 25% are associated with adult-onset ataxia without ID (PRCA or Pumilio1-related cerebellar ataxia) [Ref1].

Mouse models:
The role of PUM1 was first suggested in mouse models where Pum1 mutations were shown to lead to a SCA1-like phenotype (PMID cited : 12086639 - Watase et al 2002) further shown to be caused by increased Atxn1 mRNA and protein levels (PMID cited : 25768905 - Gennarino et al 2015).
The mouse model seems to recapitulate several of the features observed in affected individuals : Pum1 homozygous ko mice display among others hyperactivity, progressive cerebellar signs, spontaneous seizures as also observed in affected individuals (PMID cited : 25768905 - Gennarino et al 2015). Cryptorchidism was observed in 2 patients similar to testicular hypoplasia reported in Pum1 ko mice (PMID cited : 22342750 - Chen et al 2012).
- Heterozygous mice were evaluated in Ref1 with 69% or 75% exhibiting spontaneous seizures by the end of 30 or 35 wks respectively, with abnormal EEG activity already by 16 wks.

Additional individuals with PUM1 variants and a relevant phenotype of ID with or without seizures have been reported as part of the DDD study or as external submissions to Decipher and ClinVar :

https://decipher.sanger.ac.uk/search?q=PUM1#research-variants/results [ DDD4K.01387 participant ]
https://decipher.sanger.ac.uk/search?q=pum1#consented-patients/results [ external submission(s) ]
https://www.ncbi.nlm.nih.gov/clinvar/variation/431110/ [ splice-site variant in an individual with ID submitted prior to the 1st publication on the disorder ]
Intellectual disability v3.0 PUM1 Konstantinos Varvagiannis gene: PUM1 was added
gene: PUM1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PUM1 were set to 29474920; 30903679; 31859446
Phenotypes for gene: PUM1 were set to Global developmental delay; Intellectual disability; Seizures; Abnormality of the face; Ataxia; Cryptorchidism
Penetrance for gene: PUM1 were set to unknown
Review for gene: PUM1 was set to GREEN
Added comment: Please consider inclusion in both ID and epilepsy panels with probably green rating.
Sources: Literature, Radboud University Medical Center, Nijmegen
Fetal hydrops v1.16 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKLR were set to 29549173; 8285758; 10923218
Phenotypes for gene: PKLR were set to Pyruvate Kinase deficiency
Review for gene: PKLR was set to GREEN
gene: PKLR was marked as current diagnostic
Added comment: PMID 29549173:
A large cohort study (n=233) documented fetal anaemia requiring transfusion in 13% of affected fetuses and hydrops fetalis in 4%.
Sources: Expert list
Fetal hydrops v1.16 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTH1R were set to 3975110; 9268097; 8723092
Phenotypes for gene: PTH1R were set to CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
Review for gene: PTH1R was set to GREEN
gene: PTH1R was marked as current diagnostic
Added comment: PMID 3975110
Original case report "The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet"
PMID 9268097
Sibling fetuses were both hydropic at 26 and 33 weeks' gestation.
PMID 8723092:
Both fetuses hydropic, one grossly so.
Sources: Expert list
Fetal anomalies v1.0 AHCY Zornitza Stark gene: AHCY was added
gene: AHCY was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 30121674; 20852937
Phenotypes for gene: AHCY were set to S-adenosylhomocysteine hydrolase deficiency
Review for gene: AHCY was set to AMBER
Added comment: Please note recent additional report of this condition presenting prenatally with hydrops.
Sources: Expert list
Fetal anomalies v1.0 ALG9 Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26453364, 31420886; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.0 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Fetal anomalies. Sources: Expert list
Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP1A2 were set to 30690204
Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Review for gene: ATP1A2 was set to AMBER
gene: ATP1A2 was marked as current diagnostic
Added comment: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.
Sources: Expert list
Fetal hydrops v1.16 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAZ were set to 29476731; 31598953
Phenotypes for gene: TAZ were set to Barth syndrome, MIM#302060
Review for gene: TAZ was set to GREEN
gene: TAZ was marked as current diagnostic
Added comment: Cardiomyopathy is a recognised feature and hydrops has been described in case reports.
Sources: Expert list
Fetal hydrops v1.16 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RYR1 were set to 28543167; 26932181
Phenotypes for gene: RYR1 were set to Central core disease, MIM# 117000; Multiple pterygium syndrome
Review for gene: RYR1 was set to GREEN
gene: RYR1 was marked as current diagnostic
Added comment: Severe end of spectrum of RYR1-related disorders can present antenatally, including with hydrops.
Sources: Expert list
Fetal anomalies v1.0 PSAT1 Zornitza Stark reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152457; Phenotypes: Neu-Laxova syndrome 2, MIM# 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal hydrops v1.16 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 30838783; 27475004
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MIM# 616038
Review for gene: PSAT1 was set to AMBER
gene: PSAT1 was marked as current diagnostic
Added comment: Unclear how frequently hydrops is a manifestation, skin oedema mentioned in a couple of case reports.
Sources: Expert list
Fetal hydrops v1.16 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 11895570; 11494295
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1, MIM# 256520
Review for gene: PHGDH was set to GREEN
gene: PHGDH was marked as current diagnostic
Added comment: Oedema/hydrops is a presenting feature antenatally.
Sources: Expert list
Fetal hydrops v1.16 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27012807
Phenotypes for gene: MVK were set to Mevalonic aciduria, MIM#610377
Review for gene: MVK was set to GREEN
gene: MVK was marked as current diagnostic
Added comment: Reports of severe prenatal presentations with hydrops for this metabolic condition.
Sources: Expert list
Fetal hydrops v1.16 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUSK were set to 31750350; 25537362
Phenotypes for gene: MUSK were set to Fetal akinesia deformation sequence 1, MIM# 208150
Review for gene: MUSK was set to GREEN
gene: MUSK was marked as current diagnostic
Added comment: Hydrops/oedema reported in a number of affected individuals with this fetal akinesia condition.
Sources: Expert list
Fetal hydrops v1.16 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KMT2D were set to 30293990; 27568880; 15690368
Phenotypes for gene: KMT2D were set to Kabuki syndrome
Review for gene: KMT2D was set to GREEN
gene: KMT2D was marked as current diagnostic
Added comment: There are reports of hydrops fetalis in Kabuki syndrome.
Sources: Expert list
Fetal hydrops v1.16 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL40 were set to 25721947
Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, MIM# 615348
Review for gene: KLHL40 was set to AMBER
Added comment: Gene causes fetal akinesia, however can only find one specific report of hydrops.
Sources: Expert list
Rare anaemia v1.0 KIF23 Zornitza Stark reviewed gene: KIF23: Rating: RED; Mode of pathogenicity: None; Publications: 23570799; Phenotypes: Congenital dyserythropoietic anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal hydrops v1.16 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 10700180
Phenotypes for gene: GATA1 were set to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835
Review for gene: GATA1 was set to GREEN
gene: GATA1 was marked as current diagnostic
Added comment: Can present with severe hydrops in utero requiring transfusion.
Sources: Expert list
Fetal hydrops v1.16 EPHB4 Zornitza Stark gene: EPHB4 was added
gene: EPHB4 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: EPHB4 were set to 2990564; 27400125
Phenotypes for gene: EPHB4 were set to Lymphatic malformation 7, MIM#617300
Review for gene: EPHB4 was set to GREEN
gene: EPHB4 was marked as current diagnostic
Added comment: Three unrelated families reported, hydrops fetalis is a key feature of this condition.
Sources: Expert list
Fetal hydrops v1.16 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOK7 were set to 31880392; 19261599
Phenotypes for gene: DOK7 were set to Fetal akinesia sequence, MIM#618389
Review for gene: DOK7 was set to AMBER
gene: DOK7 was marked as current diagnostic
Added comment: Two unrelated families reported with fetal akinesia deformation sequence, hydrops is a feature. The gene also causes a less severe phenotype (congenital myasthenic syndrome 10), hydrops is not a feature of this.
Sources: Expert list
Fetal hydrops v1.16 DHCR7 Zornitza Stark reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: 14735596, 10215064, 9856557; Phenotypes: Smith-Lemli-Opitz syndrome, MIM#270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal hydrops v1.16 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL2A1 were set to Achondrogenesis, type II or hypochondrogenesis, MIM#200610
Review for gene: COL2A1 was set to GREEN
gene: COL2A1 was marked as current diagnostic
Added comment: Hydrops is a presenting feature of this skeletal dysplasia.
Sources: Expert list
Fetal hydrops v1.16 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to Multiple pterygium syndrome, lethal type, MIM#253290
Review for gene: CHRNG was set to GREEN
gene: CHRNG was marked as current diagnostic
Added comment: Typically presents with cystic hygroma/hydrops fetalis.
Sources: Expert list
Fetal hydrops v1.16 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Multiple pterygium syndrome, lethal type, MIM#253290
Review for gene: CHRND was set to GREEN
gene: CHRND was marked as current diagnostic
Added comment: Typically presents with cystic hygroma/hydrops fetalis.
Sources: Expert list
Fetal hydrops v1.16 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, MIM#253290
Review for gene: CHRNA1 was set to GREEN
gene: CHRNA1 was marked as current diagnostic
Added comment: Typically presents with cystic hygroma/hydrops.
Sources: Expert list
Fetal hydrops v1.16 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDAN1 were set to 30786798; 29668551; 29599085
Phenotypes for gene: CDAN1 were set to Dyserythropoietic anaemia, congenital, type Ia, MIM#224120
Review for gene: CDAN1 was set to GREEN
gene: CDAN1 was marked as current diagnostic
Added comment: Can present with fetal hydrops.
Sources: Expert list
Fetal hydrops v1.16 ATP1A2 Zornitza Stark gene: ATP1A2 was added
gene: ATP1A2 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP1A2 were set to 30690204
Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
gene: ATP1A2 was marked as current diagnostic
Added comment: Three individuals from two unrelated families reported with bi-allelic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. Please note this is a distinct phenotype from the mono-allelic variants associated with alternating hemiplegia.
Sources: Expert list
Fetal hydrops v1.16 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 26453364; 31420886
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type II, MIM#608776
Review for gene: ALG9 was set to GREEN
Added comment: CDGs can present prenatally with hydrops fetalis; please note three patients reported in recent literature review.
Sources: Expert list
Fetal hydrops v1.16 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Fetal hydrops. Sources: Expert list
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG8 were set to 26066342; 31420886
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, MIM#608104
Review for gene: ALG8 was set to GREEN
Added comment: CDGs can present prenatally with non-immune hydrops fetalis. Please note these two reviews: one of ALG8-CDG, reporting hydrops in 3/15 patients; and the other reporting hydrops in a range of CDGs.
Sources: Expert list
Fetal hydrops v1.16 ALG1 Zornitza Stark reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31420886; Phenotypes: Congenital disorder of glycosylation, type Ik, MIM#608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.16 AHCY Zornitza Stark reviewed gene: AHCY: Rating: AMBER; Mode of pathogenicity: None; Publications: 30121674; Phenotypes: S-adenosylhomocysteine hydrolase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic epilepsy syndromes v2.0 DLL1 Konstantinos Varvagiannis gene: DLL1 was added
gene: DLL1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Global developmental delay; Intellectual disability; Morphological abnormality of the central nervous system; Seizures; Behavioral abnormality; Autism; Scoliosis
Penetrance for gene: DLL1 were set to unknown
Review for gene: DLL1 was set to AMBER
Added comment: Gene added to the ID panel. Epilepsy has been reported in 6 unrelated individuals. Please consider inclusion with amber/green rating.

----

Heterozygous DLL1 pathogenic variants cause Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures (# 618709).

Fischer-Zirnsak et al (2019 - PMID: 31353024) reported on 15 affected individuals from 12 unrelated families.

Most common features included DD/ID (12/14), ASD (6/14 - belonging to 6 families) or other behavioral abnormalities, seizures (6/14 - from 6 unrelated families) and various brain MRI abnromalities. As commented by OMIM (based on the same ref) "Cognitive function ranges from severely impaired to the ability to attend schools with special assistance". Among other features, scoliosis was observed in 4. The authors could not identify a distinctive facial gestalt.

Variable initial investigations (where discussed/performed - also suggesting relevance to the current panel) included CMA, FMR1, FLNA, mitochondrial DNA analysis and metabolic work-up but had not revealed an alternative cause.

The DLL1 variants were identified by WES (with the exception of a 122-kb microdeletion spanning DLL1 and FAM120B detected by CMA). Nonsense, frame-shift, splice-site variants in positions predicted to result to NMD were identified in most. One individual was found to harbor a missense variant (NM_005618.3:c.536G>T / p.Cys179Phe) and another the aforementioned microdeletion.

The variant in several individuals had occurred as a de novo event. In 2 families, it was inherited from an also affected parent (an unaffected sib was non-carrier) while in 3 families parental studies were not possible/complete.

In frame insertion of 4 residues was demonstrated for a splice site variant, from LCLs of the corresponding individual. For another individual, material was unavailable for mRNA studies. The missense variant affected a cysteine (of the DSL domain) conserved in all Notch ligands while AA changes affecting the same position of JAG1 (another Notch ligand) have been described in patients with Alagille s.

Based on the variants identified and reports of deletions spanning DLL1 in the literature, haploinsufficiency is the proposed underlying mechanism. The gene has also a pLI of 1 and %HI of 4.65.

DLL1 encodes the Delta-like canonical Notch ligand 1. Notch signaling is an established pathway for brain morphogenesis. Previous in vivo and in vitro studies have demonstrated the role of DLL1 in CNS. The gene is highly expressed in neuronal precursor cells during embryogenesis. Expression of Dll1 (and other molecules of the Notch signalling pathway) in an oscillatory/sustained pattern and cell-cell interactions important for this pathway have been demonstrated to play a role in neuronal differentiation. [Most discussed by Fischer-Zirnsak et al with several refs provided / also Gray et al., 1999 - PMID: 10079256 & OMIM].

Animal models as summarized by the authors:
[Mouse] Loss of Dll1 in mice has been shown to increase neuronal differentiation, cause CNS hyperplasia and increased number of neurons (PMIDs cited: 9109488, 12397111, 20081190). Reduced Dll1 expression was associated with scoliosis and mild vertebral defects (cited PMIDs: 19562077, 14960495, 22484060 / among others Dll1 haploinsufficiency and dominant negative models studied). Scoliosis and vertebral segmentation defects were features in 4 and 1 individual, respectively in the cohort of 15.
[Zebrafish] Homozygous mutations in dlA, the zebrafish ortholog, disrupted the Delta-Notch signaling and led to patterning defects in the hindbrain and overproduction of neurons (cited: 15366005).
Sources: Literature
Intellectual disability v3.0 DLL1 Konstantinos Varvagiannis gene: DLL1 was added
gene: DLL1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Global developmental delay; Intellectual disability; Morphological abnormality of the central nervous system; Seizures; Behavioral abnormality; Autism; Scoliosis
Penetrance for gene: DLL1 were set to unknown
Review for gene: DLL1 was set to GREEN
Added comment: Heterozygous DLL1 pathogenic variants cause Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures (# 618709).

Fischer-Zirnsak et al (2019 - PMID: 31353024) reported on 15 affected individuals from 12 unrelated families.

Most common features included DD/ID (12/14), ASD (6/14 - belonging to 6 families) or other behavioral abnormalities, seizures (6/14 - from 6 unrelated families) and various brain MRI abnromalities. As commented by OMIM (based on the same ref) "Cognitive function ranges from severely impaired to the ability to attend schools with special assistance". Among other features, scoliosis was observed in 4. The authors could not identify a distinctive facial gestalt.

Variable initial investigations (where discussed/performed - also suggesting relevance to the current panel) included CMA, FMR1, FLNA, mitochondrial DNA analysis and metabolic work-up but had not revealed an alternative cause.

The DLL1 variants were identified by WES (with the exception of a 122-kb microdeletion spanning DLL1 and FAM120B detected by CMA). Nonsense, frame-shift, splice-site variants in positions predicted to result to NMD were identified in most. One individual was found to harbor a missense variant (NM_005618.3:c.536G>T / p.Cys179Phe) and another the aforementioned microdeletion.

The variant in several individuals had occurred as a de novo event. In 2 families, it was inherited from an also affected parent (an unaffected sib was non-carrier) while in 3 families parental studies were not possible/complete.

In frame insertion of 4 residues was demonstrated for a splice site variant, from LCLs of the corresponding individual. For another individual, material was unavailable for mRNA studies. The missense variant affected a cysteine (of the DSL domain) conserved in all Notch ligands while AA changes affecting the same position of JAG1 (another Notch ligand) have been described in patients with Alagille s.

Based on the variants identified and reports of deletions spanning DLL1 in the literature, haploinsufficiency is the proposed underlying mechanism. The gene has also a pLI of 1 and %HI of 4.65.

DLL1 encodes the Delta-like canonical Notch ligand 1. Notch signaling is an established pathway for brain morphogenesis. Previous in vivo and in vitro studies have demonstrated the role of DLL1 in CNS. The gene is highly expressed in neuronal precursor cells during embryogenesis. Expression of Dll1 (and other molecules of the Notch signalling pathway) in an oscillatory/sustained pattern and cell-cell interactions important for this pathway have been demonstrated to play a role in neuronal differentiation. [Most discussed by Fischer-Zirnsak et al with several refs provided / also Gray et al., 1999 - PMID: 10079256 & OMIM].

Animal models as summarized by the authors:
[Mouse] Loss of Dll1 in mice has been shown to increase neuronal differentiation, cause CNS hyperplasia and increased number of neurons (PMIDs cited: 9109488, 12397111, 20081190). Reduced Dll1 expression was associated with scoliosis and mild vertebral defects (cited PMIDs: 19562077, 14960495, 22484060 / among others Dll1 haploinsufficiency and dominant negative models studied). Scoliosis and vertebral segmentation defects were features in 4 and 1 individual, respectively in the cohort of 15.
[Zebrafish] Homozygous mutations in dlA, the zebrafish ortholog, disrupted the Delta-Notch signaling and led to patterning defects in the hindbrain and overproduction of neurons (cited: 15366005).

Please consider inclusion in other possibly relevant panels e.g. for ASD.
Sources: Literature
Genetic epilepsy syndromes v2.0 TFE3 Konstantinos Varvagiannis reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595499, 31833172, https://doi.org/10.1126/scisignal.aax0926; Phenotypes: Global developmental delay, Intellectual disability, Abnormality of skin pigmentation, Coarse facial features, Seizures; Mode of inheritance: Other
Intellectual disability v3.0 TFE3 Konstantinos Varvagiannis reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30595499, 31833172, https://doi.org/10.1126/scisignal.aax0926; Phenotypes: Global developmental delay, Intellectual disability, Abnormality of skin pigmentation, Coarse facial features, Seizures; Mode of inheritance: Other
Retinal disorders v2.5 TUBGCP6 Ivone Leong reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 TUBGCP4 Ivone Leong reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 TTPA Ivone Leong reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 TRNT1 Ivone Leong reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 TREX1 Ivone Leong reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 SPP2 Ivone Leong reviewed gene: SPP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 SLC25A46 Ivone Leong reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 SAMD11 Ivone Leong reviewed gene: SAMD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 RTN4IP1 Ivone Leong reviewed gene: RTN4IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 RDH11 Ivone Leong reviewed gene: RDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PRDM13 Ivone Leong reviewed gene: PRDM13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 POMGNT1 Ivone Leong reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 POC5 Ivone Leong reviewed gene: POC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PNPLA6 Ivone Leong reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PLK4 Ivone Leong reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PGK1 Ivone Leong reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 PAX2 Ivone Leong reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 OPN1SW Ivone Leong reviewed gene: OPN1SW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 NEUROD1 Ivone Leong reviewed gene: NEUROD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 NBAS Ivone Leong reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MT-TS2 Ivone Leong reviewed gene: MT-TS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MT-TP Ivone Leong reviewed gene: MT-TP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MT-TH Ivone Leong reviewed gene: MT-TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MIR204 Ivone Leong reviewed gene: MIR204: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 MAPKAPK3 Ivone Leong reviewed gene: MAPKAPK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 LAMA1 Ivone Leong reviewed gene: LAMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 JAG1 Ivone Leong reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 IFT81 Ivone Leong reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 IFT27 Ivone Leong reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 IFT172 Ivone Leong reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 GNB3 Ivone Leong reviewed gene: GNB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 EXOSC2 Ivone Leong reviewed gene: EXOSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ESPN Ivone Leong reviewed gene: ESPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ELOVL1 Ivone Leong reviewed gene: ELOVL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 DRAM2 Ivone Leong reviewed gene: DRAM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 DMD Ivone Leong reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CTNNA1 Ivone Leong reviewed gene: CTNNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CLUAP1 Ivone Leong reviewed gene: CLUAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CLCC1 Ivone Leong reviewed gene: CLCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CEP250 Ivone Leong reviewed gene: CEP250: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CEP19 Ivone Leong reviewed gene: CEP19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 CCT2 Ivone Leong reviewed gene: CCT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 C12orf65 Ivone Leong reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ATXN7 Ivone Leong reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ASRGL1 Ivone Leong reviewed gene: ASRGL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ARSG Ivone Leong reviewed gene: ARSG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ARL3 Ivone Leong reviewed gene: ARL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 AHR Ivone Leong reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 AFG3L2 Ivone Leong reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ADIPOR1 Ivone Leong reviewed gene: ADIPOR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.5 ABCC6 Ivone Leong reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v2.4 REEP6 Ivone Leong Classified gene: REEP6 as Green List (high evidence)
Retinal disorders v2.4 REEP6 Ivone Leong Gene: reep6 has been classified as Green List (High Evidence).
Retinal disorders v2.3 TUBGCP6 Ivone Leong gene: TUBGCP6 was added
gene: TUBGCP6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TUBGCP6 was set to
Retinal disorders v2.3 TUBGCP4 Ivone Leong gene: TUBGCP4 was added
gene: TUBGCP4 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TUBGCP4 was set to
Retinal disorders v2.3 TTPA Ivone Leong gene: TTPA was added
gene: TTPA was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TTPA was set to
Retinal disorders v2.3 TRNT1 Ivone Leong gene: TRNT1 was added
gene: TRNT1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TRNT1 was set to
Retinal disorders v2.3 TREX1 Ivone Leong gene: TREX1 was added
gene: TREX1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: TREX1 was set to
Retinal disorders v2.3 SPP2 Ivone Leong gene: SPP2 was added
gene: SPP2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: SPP2 was set to
Retinal disorders v2.3 SLC25A46 Ivone Leong gene: SLC25A46 was added
gene: SLC25A46 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: SLC25A46 was set to
Retinal disorders v2.3 SAMD11 Ivone Leong gene: SAMD11 was added
gene: SAMD11 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: SAMD11 was set to
Retinal disorders v2.3 RTN4IP1 Ivone Leong gene: RTN4IP1 was added
gene: RTN4IP1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: RTN4IP1 was set to
Retinal disorders v2.3 REEP6 Ivone Leong Source Expert Review Amber was added to REEP6.
Source RetNet was added to REEP6.
Source NHS GMS was added to REEP6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Retinal disorders v2.3 RDH11 Ivone Leong gene: RDH11 was added
gene: RDH11 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: RDH11 was set to
Retinal disorders v2.3 PRDM13 Ivone Leong gene: PRDM13 was added
gene: PRDM13 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PRDM13 was set to
Retinal disorders v2.3 POMGNT1 Ivone Leong gene: POMGNT1 was added
gene: POMGNT1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: POMGNT1 was set to
Retinal disorders v2.3 POC5 Ivone Leong gene: POC5 was added
gene: POC5 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: POC5 was set to
Retinal disorders v2.3 PNPLA6 Ivone Leong gene: PNPLA6 was added
gene: PNPLA6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PNPLA6 was set to
Retinal disorders v2.3 PLK4 Ivone Leong gene: PLK4 was added
gene: PLK4 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PLK4 was set to
Retinal disorders v2.3 PGK1 Ivone Leong gene: PGK1 was added
gene: PGK1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PGK1 was set to
Retinal disorders v2.3 PAX2 Ivone Leong gene: PAX2 was added
gene: PAX2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: PAX2 was set to
Retinal disorders v2.3 OPN1SW Ivone Leong gene: OPN1SW was added
gene: OPN1SW was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: OPN1SW was set to
Retinal disorders v2.3 NEUROD1 Ivone Leong gene: NEUROD1 was added
gene: NEUROD1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: NEUROD1 was set to
Retinal disorders v2.3 NBAS Ivone Leong gene: NBAS was added
gene: NBAS was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: NBAS was set to
Retinal disorders v2.3 MT-TS2 Ivone Leong gene: MT-TS2 was added
gene: MT-TS2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL
Retinal disorders v2.3 MT-TP Ivone Leong gene: MT-TP was added
gene: MT-TP was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Retinal disorders v2.3 MT-TH Ivone Leong gene: MT-TH was added
gene: MT-TH was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Retinal disorders v2.3 MIR204 Ivone Leong gene: MIR204 was added
gene: MIR204 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: MIR204 was set to
Retinal disorders v2.3 MAPKAPK3 Ivone Leong gene: MAPKAPK3 was added
gene: MAPKAPK3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: MAPKAPK3 was set to
Retinal disorders v2.3 LAMA1 Ivone Leong gene: LAMA1 was added
gene: LAMA1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: LAMA1 was set to
Retinal disorders v2.3 JAG1 Ivone Leong gene: JAG1 was added
gene: JAG1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: JAG1 was set to
Retinal disorders v2.3 IFT81 Ivone Leong gene: IFT81 was added
gene: IFT81 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: IFT81 was set to
Retinal disorders v2.3 IFT27 Ivone Leong gene: IFT27 was added
gene: IFT27 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: IFT27 was set to
Retinal disorders v2.3 IFT172 Ivone Leong gene: IFT172 was added
gene: IFT172 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: IFT172 was set to
Retinal disorders v2.3 GNB3 Ivone Leong gene: GNB3 was added
gene: GNB3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: GNB3 was set to
Retinal disorders v2.3 EXOSC2 Ivone Leong gene: EXOSC2 was added
gene: EXOSC2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: EXOSC2 was set to
Retinal disorders v2.3 ESPN Ivone Leong gene: ESPN was added
gene: ESPN was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ESPN was set to
Retinal disorders v2.3 ELOVL1 Ivone Leong gene: ELOVL1 was added
gene: ELOVL1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ELOVL1 was set to
Retinal disorders v2.3 DRAM2 Ivone Leong gene: DRAM2 was added
gene: DRAM2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: DRAM2 was set to
Retinal disorders v2.3 DMD Ivone Leong gene: DMD was added
gene: DMD was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: DMD was set to
Retinal disorders v2.3 CTNNA1 Ivone Leong gene: CTNNA1 was added
gene: CTNNA1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CTNNA1 was set to
Retinal disorders v2.3 CLUAP1 Ivone Leong gene: CLUAP1 was added
gene: CLUAP1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CLUAP1 was set to
Retinal disorders v2.3 CLCC1 Ivone Leong gene: CLCC1 was added
gene: CLCC1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CLCC1 was set to
Retinal disorders v2.3 CEP250 Ivone Leong gene: CEP250 was added
gene: CEP250 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CEP250 was set to
Retinal disorders v2.3 CEP19 Ivone Leong gene: CEP19 was added
gene: CEP19 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CEP19 was set to
Retinal disorders v2.3 CCT2 Ivone Leong gene: CCT2 was added
gene: CCT2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: CCT2 was set to
Retinal disorders v2.3 C12orf65 Ivone Leong gene: C12orf65 was added
gene: C12orf65 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: C12orf65 was set to
Retinal disorders v2.3 ATXN7 Ivone Leong gene: ATXN7 was added
gene: ATXN7 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ATXN7 was set to
Retinal disorders v2.3 ASRGL1 Ivone Leong gene: ASRGL1 was added
gene: ASRGL1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ASRGL1 was set to
Retinal disorders v2.3 ARSG Ivone Leong gene: ARSG was added
gene: ARSG was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ARSG was set to
Retinal disorders v2.3 ARL3 Ivone Leong gene: ARL3 was added
gene: ARL3 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ARL3 was set to
Retinal disorders v2.3 AHR Ivone Leong gene: AHR was added
gene: AHR was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: AHR was set to
Retinal disorders v2.3 AFG3L2 Ivone Leong gene: AFG3L2 was added
gene: AFG3L2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: AFG3L2 was set to
Retinal disorders v2.3 ADIPOR1 Ivone Leong gene: ADIPOR1 was added
gene: ADIPOR1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ADIPOR1 was set to
Retinal disorders v2.3 ABCC6 Ivone Leong gene: ABCC6 was added
gene: ABCC6 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS
Mode of inheritance for gene: ABCC6 was set to
Intellectual disability v3.0 MN1 Konstantinos Varvagiannis gene: MN1 was added
gene: MN1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MN1 were set to 31834374; 31839203; 15870292
Phenotypes for gene: MN1 were set to Central hypotonia; Feeding difficulties; Global developmental delay; Intellectual disability; Hearing impairment; Abnormality of facial skeleton; Craniosynostosis; Abnormality of the face; Abnormality of the cerebellum; Abnormality of the corpus callosum; Polymicrogyria
Penetrance for gene: MN1 were set to Complete
Review for gene: MN1 was set to GREEN
Added comment: Two studies by Mak et al (2019 - PMID: 31834374 / Ref1) and Miyake et al (2019 - PMID: 31839203 / Ref2) provide sufficient evidence for heterozygous MN1 C-terminal truncating variants (predicted to escape NMD - localizing within the last nucleotides of exon 1 or in exon 2) being associated with a distinctive phenotype and DD and ID among the features.

Mak et al also discuss on the phenotype of individuals with variants causing N-terminal truncation or with MN1 deletions (discussed at the end of this review).

Overlapping features for C-terminal truncating variants included hypotonia, feeding difficulties, global DD and ID, hearing loss, cranial shape defects (/craniosynostosis in few), highly suggestive/distinctive facial features (eg. frontal bossing, hypertelorism, downslanting palpebral-fissures, shallow orbits, short upturned nose, low-set/posteriorly rotated/dysplastic ears, etc) and brain MRI abnormalities (eg. rhomboencephalosynapsis or cerebellar dysplasia, polymicrogyria, dysplastic CC).

The majority of the affected individuals were investigated by WES/WGS with a single one tested by targeted MN1 Sanger sequencing due to highly suggestive features. Variable previous investigations incl. CMA in several, gene panel testing (Rasopathies, hearing loss, craniofacial panels, FMR1, etc) and metabolic work were normal in most. In a single case a likely pathogenic ACSL4 also explained part of the phenotype (Ref2). In the majority of these individuals, the variant had occured as a de novo event. Two sibs had inherited the truncating variant from a milder affected mosaic parent. A parental sample was not available for an additional individual.

p.(Arg1295*) or NM_002430.2:c.3883C>T was a recurrent variant, seen in several individuals and in both studies.

Several lines of evidence are provided for the MN1 variants and the role of the gene including:
- For few individuals for whom cell lines were available, variants were shown to escape NMD by cDNA/RT-PCR/RNA-seq [Ref1 & 2].
- The gene has a high expression in fetal brain [Ref2 / fig S2]
- MN1 (* 156100 - MN1 protooncogene, transcriptional regulator) has been proposed to play a role in cell proliferation and shown to act as transcription cofactor (increasing its transactivation capacity in synergy with coactivators EP300 and RAC3) [Discussion and Refs provided in Ref2].
- In vitro studies suggested increased protein stability (upon transfection of wt/mut constructs in HEK293T cells), enhanced MN1 aggregation in nuclei (when wt/mut GFP-tagged MN1 was expressed in HeLa cells), increased inhibitory effect on cell growth (MG63 cells - role of MN1 in cell proliferation discussed above) and retained transactivation activity (upon transient MN1 overexpression of wt/mt MN1 in HEK293T cells) for the variants. These seem to support a gain-of-function effect for the C-terminal truncating variants [Ref2].
- The truncating variants are proposed to raise the fraction of Intrinsically disordered regions (IDRs = regions without fixed tertiary structure) probably contributing to the above effects [Ref2].
- Expression of FLAG-tagged MN1 wt/mut MN1 followed by immunoprecipitation and mass spectrometry analysis (mCAT-Hela cells), provided evidence that MN1 is involved in transcriptional regulation: a. through binding ZBTB24 and RING1 E3 ubiquitin ligase (with mutant MN1 displaying impaired interaction with ZBTB24 and no binding to RING1) and/or b. through interaction with DNA-binding transcription factors PBX1 and PKNOX1. Proper MN1 degradation is proposed to mediate precise transcriptional regulation. [Ref2]
- Transcriptome analysis in LCLs from an affected individual suggested dysregulation of genes relevant to neuronal development (eg. LAMP, ITGA, etc) and GO analysis suggested enrichment for pathways possibly linked to the observed phenotypes [Ref2].
- Discussed in both Refs1/2, homozygous Mn1-ko mice display abnormal skull bone development and die at/shortly after birth as a result of cleft palate. Heterozygous Mn1-ko mice display hypoplastic membranous bones of the cranial skeleton and cleft palate (CP), the latter with incomplete penetrance [Meester-Smoor et al 2005 - PMID: 15870292]. This is thus compatible with the cranial shape defects observed in C-terminal truncations (while CP has been reported in gene deletions, bifid uvula was reported once in C-terminal and N-terminal truncating variants, in the latter case with submucous CP).
-----
The phenotype of other MN1 variants is discussed by Mak et al (Ref1) :
- 3 individuals with MN1 N-terminal truncating variants (eg. Ser179*, Pro365Thrfs*120, Ser472*) presented speech delay, mild conductive hearing loss and facial features different from C-terminal truncations. None of these individuals had significant ID.
- Microdeletions: One individual (#27) with 130 kb deletion harboring only MN1, presented microcephaly, DD and ID and mildly dysmorphic facial features. Deletions spanning MN1 and other genes (eg a 1.17 Mb deletion in ind. #28) and relevant cases from the literature reviewed, with mild DD/ID, variable palatal defects and/or facial dysmorphisms (distinct from the C-terminal truncating variants) among the frequent findings.

[Please consider inclusion in other possibly relevant gene panels eg. for hearing loss (conductive/sensorineural in 16/20 reported by Mak et al) or craniosynostosis, etc].
Sources: Literature
Kidneyome_SuperPanel_KidGen_VCGS v0.4 Ivone Leong Panel status changed from internal to public
Kidneyome_SuperPanel_KidGen_VCGS v0.3 SEC63 Ivone Leong Added phenotypes Polycystic liver disease 2, MIM#617004 for gene: SEC63
Kidneyome_SuperPanel_KidGen_VCGS v0.3 NUP37 Ivone Leong Added phenotypes Nephrotic syndrome for gene: NUP37
Kidneyome_SuperPanel_KidGen_VCGS v0.3 NUP205 Ivone Leong Added phenotypes Nephrotic syndrome, type 13, MIM#616893 for gene: NUP205
Kidneyome_SuperPanel_KidGen_VCGS v0.3 NUP160 Ivone Leong Added phenotypes Nephrotic syndrome, type 19, MIM#618178 for gene: NUP160
Kidneyome_SuperPanel_KidGen_VCGS v0.3 LMNA Ivone Leong Added phenotypes FSGS; Familial partial lipodystrophy for gene: LMNA
Kidneyome_SuperPanel_KidGen_VCGS v0.3 ITGB4 Ivone Leong Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730 for gene: ITGB4
Kidneyome_SuperPanel_KidGen_VCGS v0.3 COQ8A Ivone Leong Added phenotypes Coenzyme Q10 deficiency, primary, 4, MIM#612016 for gene: COQ8A
Kidneyome_SuperPanel_KidGen_VCGS v0.3 COL4A2 Ivone Leong Added phenotypes Brain small vessel disease 2, MIM#614483 for gene: COL4A2
Kidneyome_SuperPanel_KidGen_VCGS v0.3 XPO5 Ivone Leong Added phenotypes Nephrotic syndrome for gene: XPO5
Kidneyome_SuperPanel_KidGen_VCGS v0.3 SOX11 Ivone Leong Added phenotypes Congenital abnormalities of the kidneys and urinary tract for gene: SOX11
Kidneyome_SuperPanel_KidGen_VCGS v0.3 KANK1 Ivone Leong Added phenotypes Nephrotic syndrome for gene: KANK1
Kidneyome_SuperPanel_KidGen_VCGS v0.3 FGF20 Ivone Leong Added phenotypes Renal hypodysplasia/aplasia 2, MIM#615721 for gene: FGF20
Kidneyome_SuperPanel_KidGen_VCGS v0.3 DACT1 Ivone Leong Added phenotypes Townes-Brocks syndrome 2, MIM#617466 for gene: DACT1
Kidneyome_SuperPanel_KidGen_VCGS v0.3 CDC5L Ivone Leong Added phenotypes Congenital abnormalities of the kidneys and urinary tract for gene: CDC5L
Kidneyome_SuperPanel_KidGen_VCGS v0.3 BMP7 Ivone Leong Added phenotypes Congenital abnormalities of the kidneys and urinary tract for gene: BMP7
Kidneyome_SuperPanel_KidGen_VCGS v0.3 APOL1 Ivone Leong Added phenotypes {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551 for gene: APOL1
Kidneyome_SuperPanel_KidGen_VCGS v0.3 ADCY10 Ivone Leong Mode of inheritance for gene ADCY10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Hypercalciuria, absorptive, susceptibility to, MIM#143870 for gene: ADCY10
Kidneyome_SuperPanel_KidGen_VCGS v0.3 ZIC3 Ivone Leong Added phenotypes VACTERL association, X-linked, MIM#314390 for gene: ZIC3
Kidneyome_SuperPanel_KidGen_VCGS v0.3 WNT5A Ivone Leong Added phenotypes Robinow syndrome, autosomal dominant 1, MIM#180700 for gene: WNT5A
Kidneyome_SuperPanel_KidGen_VCGS v0.3 UMOD Ivone Leong Source Expert Review Green was added to UMOD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Kidneyome_SuperPanel_KidGen_VCGS v0.3 TTC21B Ivone Leong Source Expert Review Green was added to TTC21B.
Mode of inheritance for gene TTC21B was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Rating Changed from Red List (low evidence) to Green List (high evidence)
Kidneyome_SuperPanel_KidGen_VCGS v0.3 TBC1D8B Ivone Leong Added phenotypes Nephrotic syndrome, type 20, MIM# 301028 for gene: TBC1D8B
Kidneyome_SuperPanel_KidGen_VCGS v0.3 STRA6 Ivone Leong Added phenotypes Microphthalmia, isolated, with coloboma 8, MIM#601186 for gene: STRA6
Kidneyome_SuperPanel_KidGen_VCGS v0.3 SCLT1 Ivone Leong Added phenotypes Senior-Loken syndrome; Orofaciodigital syndrome type IX for gene: SCLT1
Kidneyome_SuperPanel_KidGen_VCGS v0.3 REN Ivone Leong Mode of inheritance for gene REN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Kidneyome_SuperPanel_KidGen_VCGS v0.3 PAX2 Ivone Leong Added phenotypes Glomerulosclerosis, focal segmental, 7, MIM#616002 for gene: PAX2
Kidneyome_SuperPanel_KidGen_VCGS v0.3 OCRL Ivone Leong Mode of inheritance for gene OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Dent disease 2, MIM#300555; Lowe syndrome, MIM#309000 for gene: OCRL
Kidneyome_SuperPanel_KidGen_VCGS v0.3 NUP93 Ivone Leong Added phenotypes Nephrotic syndrome, type 12, MIM#616892 for gene: NUP93
Kidneyome_SuperPanel_KidGen_VCGS v0.3 NUP85 Ivone Leong Added phenotypes Nephrotic syndrome, type 17, MIM#618176 for gene: NUP85
Kidneyome_SuperPanel_KidGen_VCGS v0.3 NUP133 Ivone Leong Added phenotypes Nephrotic syndrome, type 18, MIM#618177 for gene: NUP133
Kidneyome_SuperPanel_KidGen_VCGS v0.3 NPHP3 Ivone Leong Source Expert Review Green was added to NPHP3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Kidneyome_SuperPanel_KidGen_VCGS v0.3 NLRP3 Ivone Leong Added phenotypes Muckle-Wells syndrome, MIM#191900 for gene: NLRP3
Kidneyome_SuperPanel_KidGen_VCGS v0.3 MYOCD Ivone Leong Added phenotypes congenital heart disease; Megabladder; cardiomyopathy for gene: MYOCD
Kidneyome_SuperPanel_KidGen_VCGS v0.3 MMACHC Ivone Leong Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 for gene: MMACHC
Kidneyome_SuperPanel_KidGen_VCGS v0.3 LYZ Ivone Leong Added phenotypes Amyloidosis, renal, MIM#105200 for gene: LYZ
Kidneyome_SuperPanel_KidGen_VCGS v0.3 LAMA5 Ivone Leong Added phenotypes Nephrotic syndrome for gene: LAMA5
Kidneyome_SuperPanel_KidGen_VCGS v0.3 KYNU Ivone Leong Added phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661 for gene: KYNU
Kidneyome_SuperPanel_KidGen_VCGS v0.3 KANK2 Ivone Leong Added phenotypes Nephrotic syndrome, type 16, MIM#617783 for gene: KANK2
Kidneyome_SuperPanel_KidGen_VCGS v0.3 HNF1B Ivone Leong Added phenotypes Renal cysts and diabetes syndrome, MIM#137920 for gene: HNF1B
Kidneyome_SuperPanel_KidGen_VCGS v0.3 HAAO Ivone Leong Added phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660 for gene: HAAO
Kidneyome_SuperPanel_KidGen_VCGS v0.3 GSN Ivone Leong Added phenotypes Amyloidosis, Finnish type, MIM#105200 for gene: GSN
Kidneyome_SuperPanel_KidGen_VCGS v0.3 FOXC1 Ivone Leong Source Expert Review Green was added to FOXC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Kidneyome_SuperPanel_KidGen_VCGS v0.3 FGFR3 Ivone Leong Added phenotypes LADD syndrome, MIM#149730 for gene: FGFR3
Kidneyome_SuperPanel_KidGen_VCGS v0.3 FGA Ivone Leong Added phenotypes Amyloidosis, familial visceral, MIM#105200 for gene: FGA
Kidneyome_SuperPanel_KidGen_VCGS v0.3 FAN1 Ivone Leong Added phenotypes Interstitial nephritis, karyomegalic for gene: FAN1
Kidneyome_SuperPanel_KidGen_VCGS v0.3 EXOC3L2 Ivone Leong Added phenotypes bone marrow failure; Dandy-Walker malformation; renal dysplasia for gene: EXOC3L2
Kidneyome_SuperPanel_KidGen_VCGS v0.3 DZIP1L Ivone Leong Added phenotypes Polycystic kidney disease 5, MIM#617610 for gene: DZIP1L
Kidneyome_SuperPanel_KidGen_VCGS v0.3 DNAJB11 Ivone Leong Added phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 for gene: DNAJB11
Kidneyome_SuperPanel_KidGen_VCGS v0.3 COQ8B Ivone Leong Added phenotypes Nephrotic syndrome, type 9, MIM#615573 for gene: COQ8B
Kidneyome_SuperPanel_KidGen_VCGS v0.3 COQ7 Ivone Leong Added phenotypes Coenzyme Q10 deficiency, primary, 8, MIM#616733 for gene: COQ7
Kidneyome_SuperPanel_KidGen_VCGS v0.3 COL4A1 Ivone Leong Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773 for gene: COL4A1
Kidneyome_SuperPanel_KidGen_VCGS v0.3 CLCN5 Ivone Leong Added phenotypes Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Dent disease, MIM#300009 for gene: CLCN5
Kidneyome_SuperPanel_KidGen_VCGS v0.3 CFH Ivone Leong Mode of inheritance for gene CFH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Complement factor H deficiency, MIM#609814 for gene: CFH
Kidneyome_SuperPanel_KidGen_VCGS v0.3 CEP55 Ivone Leong Added phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500 for gene: CEP55
Kidneyome_SuperPanel_KidGen_VCGS v0.3 CENPF Ivone Leong Added phenotypes Stromme syndrome, MIM#243605 for gene: CENPF
Kidneyome_SuperPanel_KidGen_VCGS v0.3 CD151 Ivone Leong Source Expert Review Green was added to CD151.
Added phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 for gene: CD151
Rating Changed from Red List (low evidence) to Green List (high evidence)
Kidneyome_SuperPanel_KidGen_VCGS v0.3 CASR Ivone Leong Mode of inheritance for gene CASR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198 for gene: CASR
Kidneyome_SuperPanel_KidGen_VCGS v0.3 BSND Ivone Leong Mode of inheritance for gene BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bartter syndrome, Type 4a, MIM#602522 for gene: BSND
Kidneyome_SuperPanel_KidGen_VCGS v0.3 ATP6V0A4 Ivone Leong Mode of inheritance for gene ATP6V0A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Renal tubular acidosis, distal, autosomal recessive, MIM#602722 for gene: ATP6V0A4
Kidneyome_SuperPanel_KidGen_VCGS v0.3 AQP2 Ivone Leong Added phenotypes Diabetes insipidus, nephrogenic, MIM#125800 for gene: AQP2
Kidneyome_SuperPanel_KidGen_VCGS v0.3 APRT Ivone Leong Mode of inheritance for gene APRT was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.3 APOE Ivone Leong Added phenotypes Lipoprotein glomerulopathy, MIM#611771 for gene: APOE
Kidneyome_SuperPanel_KidGen_VCGS v0.3 APOA1 Ivone Leong Added phenotypes Amyloidosis, 3 or more types, MIM#105200 for gene: APOA1
Kidneyome_SuperPanel_KidGen_VCGS v0.3 AMN Ivone Leong Added phenotypes Megaloblastic anemia-1, Norwegian type, MIM#261100 for gene: AMN
Kidneyome_SuperPanel_KidGen_VCGS v0.3 AHI1 Ivone Leong Added phenotypes Joubert syndrome 3, MIM#608629 for gene: AHI1
Kidneyome_SuperPanel_KidGen_VCGS v0.3 AGXT Ivone Leong Mode of inheritance for gene AGXT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperoxaluria, primary, type 1, MIM#259900 for gene: AGXT
Intellectual disability v3.0 CXorf56 Konstantinos Varvagiannis gene: CXorf56 was added
gene: CXorf56 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: CXorf56 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CXorf56 were set to 29374277; 31822863
Phenotypes for gene: CXorf56 were set to ?Mental retardation, X-linked 107, 301013
Penetrance for gene: CXorf56 were set to unknown
Review for gene: CXorf56 was set to AMBER
Added comment: Verkerk et al (2018 - PMID: 29374277) reported on a three-generation family with five males and one female presenting mild non-syndromic ID. Segregation was compatible with X-linked inheritance.

Multipoint linkage analysis with XL microsatellite markers demonstrated a linkage peak at Xq23-24 with LOD score of 3.3. Haplotype analysis and utilization of additional STR markers allowed narrowing to a region of 7.6 Mb containing 92 genes.

WGS in 3 affected males (spanning 3 generations) and 1 unaffected male and application of relevant filters for rare protein affecting variants within this region - present only in affected but absent in the unaffected individual - suggested a CXorf56 frameshift variant in exon 2 [NM_022101.3:c.159_160insTA / p.(Asp54*)] as the only relevant for this phenotype.

Sanger sequencing was performed for 25 family members with all 5 affected males and 1 affected female harboring this insertion and 8 unaffected females (also) shown to be carriers.

X-chromosome inactivation studies demonstrated that unaffected females had skewed inactivation (76-93%) of the variant allele, while the single affected female did not have a skewed XCI pattern (54%).

In EBV-transformed lymphoblasts grown with/without cycloheximide, mRNA levels were shown to be significantly lower in the affected female compared to unaffected ones (and corrected upon treatment with cycloheximide). mRNA levels were also significantly lower in cell lines from an affected male, with expression showing significant increase after treatment with cycloheximide. These results confirmed that nonsense-mediated decay applies.

The variant was absent from ExAC (where CXorf56 has a pLI of 0.93) and 188 healthy Dutch individuals.

The function of CXorf56 is not known. The gene appears to be expressed in brain and a (broad) range of other tissues [ https://gtexportal.org/home/gene/CXORF56 ].

Immunostaining in 8-week old murine brain, showed that the protein is present in the nucleus and cell soma of most neurons in brain cortex and cerebellum. Upon transfection of human CXorf56 cDNA in mouse primary hippocampal neurons, the protein localized in the nucleus, dendrites (co-localizing with Map2) and dendritic spines. As the authors note, the latter may suggest a role in synaptic function.

Overexpression in HEK293T cells demonstrated predominantly nuclear localization.

Mouse : Based on MGI (and an article by Cox et al. - PMID: 20548051 / both cited by the authors) male chimeras hemizygous for a gene trapped allele have abnormal midbrain-hindbrain boundary morphology, decreased forebrain size, while a subset hemizygous for a different gene trapped allele show growth delay [ http://www.informatics.jax.org/marker/MGI:1924894 ].

-----

Rocha et al (2019 - PMID: 31822863) report on 9 affected individuals with mild to severe ID belonging to 3 unrelated families. Additional features in this cohort - observed in some - included abnormal reflexes, fine tremor, seizures (in 3), abnormal gait, etc.

In the 1st family, 3 males presented with (severe/severe/moderate) ID and 2 females with mild ID. Following a normal CMA and FMR1 testing, trio plus exome sequencing revealed a CXorf56 in-frame deletion [NM_022101.3:c.498_503del / p.(Glu167_Glu168del)]. Sanger sequencing in 9 members, confirmed presence of the variant in one unaffected mother, all her affected sons (2) and daughers(2) and an affected grandson and absence in 2 remaining unaffected daughters. Skewing of XCI was seen in blood cells from affected females (97 and 83%) while the unaffected mother had complete inactivation of the carrier X-chromosome. The authors commented that even minor reductions in CXorf56 (suggested by XCI in affected females) may be detrimental and/or that inactivation for this gene may be different than that of AR gene (which was studied instead) or in other tissues.

In family 2, an affected mother (with learning difficulties) and her 2 sons - the most severely affected presenting moderate ID - harbored a frameshift variant [c.303_304delCTinsACCC / p.(Phe101Leufs*20)].

A male with ID belonging to a 3rd family, for which no further information was available, was found to harbor the c.498_503del variant (also discussed above) as a de novo event.

It has been commented that individuals with Xq24 deletions spanning CXorf56 present with ID, although (all) such deletions reported in the literature also span the neighboring UBE2A gene, associated with Mental retardation, X-linked syndromic, Nascimento-type (MIM #300860).

-----

In OMIM, the CXorf56-related phenotype is ?Mental retardation, X-linked 107 (# 301013), based only on the report by Verkerk et al.

This gene is included in gene panels for ID offered by some diagnostic laboratories (incl. Radboudumc).

-----

Overall, CXorf56 can be considered for inclusion in the ID panel either with amber (function of the gene unknown, skewed XCI also in affected females in the 2nd reference) or with green rating (several individuals from 4 families, compatible segregation studies and females presenting a milder phenotype than males or unaffected, LOD score in the 1st report, studies confirming lower mRNA levels and NMD, gene expressed in human brain, expression in mouse brain cortex and cerebellum, evidence from transfection studies in mouse hippocampal neurons).

[Note : penetrance was here set to unknown / It was complete for males, incomplete for females].
Sources: Literature, Radboud University Medical Center, Nijmegen
Skeletal dysplasia v2.0 SCUBE3 Zerin Hyder gene: SCUBE3 was added
gene: SCUBE3 was added to Skeletal dysplasia. Sources: Other
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Penetrance for gene: SCUBE3 were set to unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 UPK3A Ivone Leong gene: UPK3A was added
gene: UPK3A was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: UPK3A was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 UMOD Ivone Leong gene: UMOD was added
gene: UMOD was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: UMOD was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 SEMA3A Ivone Leong gene: SEMA3A was added
gene: SEMA3A was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: SEMA3A was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 NPHP3 Ivone Leong gene: NPHP3 was added
gene: NPHP3 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: NPHP3 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 HOXB6 Ivone Leong gene: HOXB6 was added
gene: HOXB6 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: HOXB6 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 HOXA4 Ivone Leong gene: HOXA4 was added
gene: HOXA4 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: HOXA4 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 FOXC1 Ivone Leong gene: FOXC1 was added
gene: FOXC1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: FOXC1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 FGFR1 Ivone Leong gene: FGFR1 was added
gene: FGFR1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: FGFR1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 EZH2 Ivone Leong gene: EZH2 was added
gene: EZH2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: EZH2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 CDX2 Ivone Leong gene: CDX2 was added
gene: CDX2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: CDX2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 SOX11 Ivone Leong gene: SOX11 was added
gene: SOX11 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX11 were set to 24886874; 29459093
Phenotypes for gene: SOX11 were set to Congenital abnormalities of the kidneys and urinary tract
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 FGF20 Ivone Leong gene: FGF20 was added
gene: FGF20 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,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
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 DACT1 Ivone Leong gene: DACT1 was added
gene: DACT1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DACT1 were set to 28054444
Phenotypes for gene: DACT1 were set to Townes-Brocks syndrome 2, MIM#617466
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 CDC5L Ivone Leong gene: CDC5L was added
gene: CDC5L was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,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
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 BMP7 Ivone Leong gene: BMP7 was added
gene: BMP7 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,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
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 ZIC3 Ivone Leong gene: ZIC3 was added
gene: ZIC3 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked, MIM#314390
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 WNT5A Ivone Leong gene: WNT5A was added
gene: WNT5A was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1, MIM#180700
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 WNT4 Ivone Leong gene: WNT4 was added
gene: WNT4 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: WNT4 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 TRAP1 Ivone Leong gene: TRAP1 was added
gene: TRAP1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TRAP1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 TNXB Ivone Leong gene: TNXB was added
gene: TNXB was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TNXB was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 TFAP2A Ivone Leong gene: TFAP2A was added
gene: TFAP2A was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TFAP2A was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 TBX18 Ivone Leong gene: TBX18 was added
gene: TBX18 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TBX18 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 TBC1D1 Ivone Leong gene: TBC1D1 was added
gene: TBC1D1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TBC1D1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 STRA6 Ivone Leong gene: STRA6 was added
gene: STRA6 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, MIM#601186
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 SRGAP1 Ivone Leong gene: SRGAP1 was added
gene: SRGAP1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SRGAP1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 SOX17 Ivone Leong gene: SOX17 was added
gene: SOX17 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SOX17 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 SLIT2 Ivone Leong gene: SLIT2 was added
gene: SLIT2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLIT2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 SIX5 Ivone Leong gene: SIX5 was added
gene: SIX5 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SIX5 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 SIX2 Ivone Leong gene: SIX2 was added
gene: SIX2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SIX2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 SIX1 Ivone Leong gene: SIX1 was added
gene: SIX1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SIX1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 SALL4 Ivone Leong gene: SALL4 was added
gene: SALL4 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SALL4 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 SALL1 Ivone Leong gene: SALL1 was added
gene: SALL1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SALL1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 ROR2 Ivone Leong gene: ROR2 was added
gene: ROR2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ROR2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 ROBO2 Ivone Leong gene: ROBO2 was added
gene: ROBO2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ROBO2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 RET Ivone Leong gene: RET was added
gene: RET was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: RET was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 REN Ivone Leong gene: REN was added
gene: REN was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 PBX1 Ivone Leong gene: PBX1 was added
gene: PBX1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PBX1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 PAX2 Ivone Leong gene: PAX2 was added
gene: PAX2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PAX2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 NOTCH2 Ivone Leong gene: NOTCH2 was added
gene: NOTCH2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NOTCH2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 NIPBL Ivone Leong gene: NIPBL was added
gene: NIPBL was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NIPBL was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 MYOCD Ivone Leong gene: MYOCD was added
gene: MYOCD was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Literature,Expert Review Green
Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYOCD were set to 31513549
Phenotypes for gene: MYOCD were set to Megabladder; cardiomyopathy; congenital heart disease
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 LRP4 Ivone Leong gene: LRP4 was added
gene: LRP4 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LRP4 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 LRIG2 Ivone Leong gene: LRIG2 was added
gene: LRIG2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LRIG2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 LIFR Ivone Leong gene: LIFR was added
gene: LIFR was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LIFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LIFR were set to 28334964
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 KYNU Ivone Leong gene: KYNU was added
gene: KYNU was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 28792876
Phenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 KMT2D Ivone Leong gene: KMT2D was added
gene: KMT2D was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KMT2D was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 KDM6A Ivone Leong gene: KDM6A was added
gene: KDM6A was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KDM6A was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 JAG1 Ivone Leong gene: JAG1 was added
gene: JAG1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: JAG1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 ITGA8 Ivone Leong gene: ITGA8 was added
gene: ITGA8 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ITGA8 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 HPSE2 Ivone Leong gene: HPSE2 was added
gene: HPSE2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPSE2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 HOXA13 Ivone Leong gene: HOXA13 was added
gene: HOXA13 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HOXA13 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 HNF1B Ivone Leong gene: HNF1B was added
gene: HNF1B was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HNF1B was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 HAAO Ivone Leong gene: HAAO was added
gene: HAAO was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 GRIP1 Ivone Leong gene: GRIP1 was added
gene: GRIP1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GRIP1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 GREB1L Ivone Leong gene: GREB1L was added
gene: GREB1L was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GREB1L was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 GPC3 Ivone Leong gene: GPC3 was added
gene: GPC3 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GPC3 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 GLI3 Ivone Leong gene: GLI3 was added
gene: GLI3 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GLI3 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 GATA3 Ivone Leong gene: GATA3 was added
gene: GATA3 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GATA3 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 FREM2 Ivone Leong gene: FREM2 was added
gene: FREM2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FREM2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 FREM1 Ivone Leong gene: FREM1 was added
gene: FREM1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FREM1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 FRAS1 Ivone Leong gene: FRAS1 was added
gene: FRAS1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FRAS1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 FOXC2 Ivone Leong gene: FOXC2 was added
gene: FOXC2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FOXC2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 FGFR3 Ivone Leong gene: FGFR3 was added
gene: FGFR3 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to LADD syndrome, MIM#149730
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 FGFR2 Ivone Leong gene: FGFR2 was added
gene: FGFR2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FGFR2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 FGF8 Ivone Leong gene: FGF8 was added
gene: FGF8 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FGF8 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 FGF10 Ivone Leong gene: FGF10 was added
gene: FGF10 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FGF10 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 FAM58A Ivone Leong gene: FAM58A was added
gene: FAM58A was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FAM58A was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 EYA1 Ivone Leong gene: EYA1 was added
gene: EYA1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: EYA1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 EXOC3L2 Ivone Leong gene: EXOC3L2 was added
gene: EXOC3L2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Literature,Expert Review Green
Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC3L2 were set to 27894351; 30327448; 28749478
Phenotypes for gene: EXOC3L2 were set to bone marrow failure; Dandy-Walker malformation; renal dysplasia
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 DSTYK Ivone Leong gene: DSTYK was added
gene: DSTYK was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DSTYK was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 DHCR7 Ivone Leong gene: DHCR7 was added
gene: DHCR7 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 CTU2 Ivone Leong gene: CTU2 was added
gene: CTU2 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert list,Expert Review Green
Mode of inheritance for gene: CTU2 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 COQ7 Ivone Leong gene: COQ7 was added
gene: COQ7 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to 28409910; 31240163; 26084283
Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8, MIM#616733
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 CHD7 Ivone Leong gene: CHD7 was added
gene: CHD7 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CHD7 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 CHD1L Ivone Leong gene: CHD1L was added
gene: CHD1L was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CHD1L was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 CEP55 Ivone Leong gene: CEP55 was added
gene: CEP55 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 28295209; 28264986; 30622327
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 CENPF Ivone Leong gene: CENPF was added
gene: CENPF was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPF were set to Stromme syndrome, MIM#243605
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 BMP4 Ivone Leong gene: BMP4 was added
gene: BMP4 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BMP4 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 BICC1 Ivone Leong gene: BICC1 was added
gene: BICC1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BICC1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 ANOS1 Ivone Leong gene: ANOS1 was added
gene: ANOS1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ANOS1 was set to Unknown
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 AGTR1 Ivone Leong gene: AGTR1 was added
gene: AGTR1 was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 AGT Ivone Leong gene: AGT was added
gene: AGT was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 ACE Ivone Leong gene: ACE was added
gene: ACE was added to Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS v0.0 Ivone Leong Added panel Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel_KidGen_VCGS
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.1 Ivone Leong Panel status changed from internal to public
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 TTC21B Ivone Leong gene: TTC21B was added
gene: TTC21B was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Nephronophthisis 12, MIM#613820
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 NUP37 Ivone Leong gene: NUP37 was added
gene: NUP37 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Red,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
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 NUP205 Ivone Leong gene: NUP205 was added
gene: NUP205 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Red,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
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 NUP160 Ivone Leong gene: NUP160 was added
gene: NUP160 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Red,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
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 LMNA Ivone Leong gene: LMNA was added
gene: LMNA was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to 24080738
Phenotypes for gene: LMNA were set to Familial partial lipodystrophy; FSGS
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 ITGB4 Ivone Leong gene: ITGB4 was added
gene: ITGB4 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGB4 were set to 10873890
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 COQ8A Ivone Leong gene: COQ8A was added
gene: COQ8A was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ8A was set to Unknown
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, MIM#612016
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 COL4A2 Ivone Leong gene: COL4A2 was added
gene: COL4A2 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL4A2 were set to Brain small vessel disease 2, MIM#614483
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 XPO5 Ivone Leong gene: XPO5 was added
gene: XPO5 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert list,Expert Review Amber
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
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 KANK4 Ivone Leong gene: KANK4 was added
gene: KANK4 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: KANK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK4 were set to 25961457
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 KANK1 Ivone Leong gene: KANK1 was added
gene: KANK1 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert list,Expert Review Amber
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
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 APOL1 Ivone Leong gene: APOL1 was added
gene: APOL1 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Amber
Mode of inheritance for gene: APOL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOL1 were set to 20635188; 24206458; 20647424
Phenotypes for gene: APOL1 were set to {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 WT1 Ivone Leong gene: WT1 was added
gene: WT1 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: WT1 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 WDR73 Ivone Leong gene: WDR73 was added
gene: WDR73 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: WDR73 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 TRPC6 Ivone Leong gene: TRPC6 was added
gene: TRPC6 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TRPC6 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 TPRKB Ivone Leong gene: TPRKB was added
gene: TPRKB was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TPRKB was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 TP53RK Ivone Leong gene: TP53RK was added
gene: TP53RK was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TP53RK was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 TBC1D8B Ivone Leong gene: TBC1D8B was added
gene: TBC1D8B was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TBC1D8B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TBC1D8B were set to 30661770
Phenotypes for gene: TBC1D8B were set to Nephrotic syndrome, type 20, MIM# 301028
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 SMARCAL1 Ivone Leong gene: SMARCAL1 was added
gene: SMARCAL1 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 SGPL1 Ivone Leong gene: SGPL1 was added
gene: SGPL1 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SGPL1 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 SCARB2 Ivone Leong gene: SCARB2 was added
gene: SCARB2 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SCARB2 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 PTPRO Ivone Leong gene: PTPRO was added
gene: PTPRO was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PTPRO was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 PLCE1 Ivone Leong gene: PLCE1 was added
gene: PLCE1 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PLCE1 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 PDSS2 Ivone Leong gene: PDSS2 was added
gene: PDSS2 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PDSS2 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 PAX2 Ivone Leong gene: PAX2 was added
gene: PAX2 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX2 were set to 24676634
Phenotypes for gene: PAX2 were set to Glomerulosclerosis, focal segmental, 7, MIM#616002
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 OSGEP Ivone Leong gene: OSGEP was added
gene: OSGEP was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: OSGEP was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 OCRL Ivone Leong gene: OCRL was added
gene: OCRL was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green,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
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 NUP93 Ivone Leong gene: NUP93 was added
gene: NUP93 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Green,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
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 NUP85 Ivone Leong gene: NUP85 was added
gene: NUP85 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Green,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
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 NUP133 Ivone Leong gene: NUP133 was added
gene: NUP133 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Green,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
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 NUP107 Ivone Leong gene: NUP107 was added
gene: NUP107 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NUP107 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 NPHS2 Ivone Leong gene: NPHS2 was added
gene: NPHS2 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NPHS2 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 NPHS1 Ivone Leong gene: NPHS1 was added
gene: NPHS1 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NPHS1 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 MYO1E Ivone Leong gene: MYO1E was added
gene: MYO1E was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYO1E was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 MYH9 Ivone Leong gene: MYH9 was added
gene: MYH9 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYH9 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 MAGI2 Ivone Leong gene: MAGI2 was added
gene: MAGI2 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MAGI2 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 LMX1B Ivone Leong gene: LMX1B was added
gene: LMX1B was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LMX1B was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 LAMB2 Ivone Leong gene: LAMB2 was added
gene: LAMB2 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 LAMA5 Ivone Leong gene: LAMA5 was added
gene: LAMA5 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA5 were set to 29534211
Phenotypes for gene: LAMA5 were set to Nephrotic syndrome
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 LAGE3 Ivone Leong gene: LAGE3 was added
gene: LAGE3 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LAGE3 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 KANK2 Ivone Leong gene: KANK2 was added
gene: KANK2 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Green,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
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 ITGA3 Ivone Leong gene: ITGA3 was added
gene: ITGA3 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ITGA3 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 INF2 Ivone Leong gene: INF2 was added
gene: INF2 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: INF2 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 FN1 Ivone Leong gene: FN1 was added
gene: FN1 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FN1 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 FAT1 Ivone Leong gene: FAT1 was added
gene: FAT1 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FAT1 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 EMP2 Ivone Leong gene: EMP2 was added
gene: EMP2 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: EMP2 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 DGKE Ivone Leong gene: DGKE was added
gene: DGKE was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DGKE was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 CUBN Ivone Leong gene: CUBN was added
gene: CUBN was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CUBN was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 CRB2 Ivone Leong gene: CRB2 was added
gene: CRB2 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CRB2 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 COQ8B Ivone Leong gene: COQ8B was added
gene: COQ8B was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Green,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
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 COQ6 Ivone Leong gene: COQ6 was added
gene: COQ6 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COQ6 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 COQ2 Ivone Leong gene: COQ2 was added
gene: COQ2 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COQ2 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 COL4A5 Ivone Leong gene: COL4A5 was added
gene: COL4A5 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A5 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 COL4A4 Ivone Leong gene: COL4A4 was added
gene: COL4A4 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A4 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 COL4A3 Ivone Leong gene: COL4A3 was added
gene: COL4A3 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A3 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 COL4A1 Ivone Leong gene: COL4A1 was added
gene: COL4A1 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A1 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 CLCN5 Ivone Leong gene: CLCN5 was added
gene: CLCN5 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green,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 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Dent disease, MIM#300009
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 CFHR5 Ivone Leong gene: CFHR5 was added
gene: CFHR5 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CFHR5 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 CFH Ivone Leong gene: CFH was added
gene: CFH was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CFH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CFH were set to Complement factor H deficiency, MIM#609814
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 CD2AP Ivone Leong gene: CD2AP was added
gene: CD2AP was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CD2AP was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 CD151 Ivone Leong gene: CD151 was added
gene: CD151 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CD151 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 ARHGDIA Ivone Leong gene: ARHGDIA was added
gene: ARHGDIA was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ARHGDIA was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 ARHGAP24 Ivone Leong gene: ARHGAP24 was added
gene: ARHGAP24 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ARHGAP24 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 APOE Ivone Leong gene: APOE was added
gene: APOE was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: APOE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOE were set to 28966924; 18077821; 24348079
Phenotypes for gene: APOE were set to Lipoprotein glomerulopathy, MIM#611771
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 ANLN Ivone Leong gene: ANLN was added
gene: ANLN was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ANLN was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 AMN Ivone Leong gene: AMN was added
gene: AMN was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Expert Review Green,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
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 ALMS1 Ivone Leong gene: ALMS1 was added
gene: ALMS1 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 ACTN4 Ivone Leong gene: ACTN4 was added
gene: ACTN4 was added to Renal glomerular disease_SuperPanel_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ACTN4 was set to Unknown
Renal glomerular disease_SuperPanel_VCGS_KidGen v0.0 Ivone Leong Added panel Renal glomerular disease_SuperPanel_VCGS_KidGen
Renal cystic disease_SuperPanel_KidGen_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 SEC63 Ivone Leong gene: SEC63 was added
gene: SEC63 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC63 were set to 15133510
Phenotypes for gene: SEC63 were set to Polycystic liver disease 2, MIM#617004
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 ZNF423 Ivone Leong gene: ZNF423 was added
gene: ZNF423 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ZNF423 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 XPNPEP3 Ivone Leong gene: XPNPEP3 was added
gene: XPNPEP3 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: XPNPEP3 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 WDR60 Ivone Leong gene: WDR60 was added
gene: WDR60 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDR60 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 WDR35 Ivone Leong gene: WDR35 was added
gene: WDR35 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDR35 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 WDR34 Ivone Leong gene: WDR34 was added
gene: WDR34 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDR34 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 WDR19 Ivone Leong gene: WDR19 was added
gene: WDR19 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDR19 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 WDPCP Ivone Leong gene: WDPCP was added
gene: WDPCP was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDPCP was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 UMOD Ivone Leong gene: UMOD was added
gene: UMOD was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: UMOD was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TXNDC15 Ivone Leong gene: TXNDC15 was added
gene: TXNDC15 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TXNDC15 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TTC8 Ivone Leong gene: TTC8 was added
gene: TTC8 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TTC8 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TTC21B Ivone Leong gene: TTC21B was added
gene: TTC21B was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TTC21B was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TSC2 Ivone Leong gene: TSC2 was added
gene: TSC2 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: TSC2 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TSC1 Ivone Leong gene: TSC1 was added
gene: TSC1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: TSC1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TRIM32 Ivone Leong gene: TRIM32 was added
gene: TRIM32 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TRIM32 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TRAF3IP1 Ivone Leong gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TRAF3IP1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TMEM67 Ivone Leong gene: TMEM67 was added
gene: TMEM67 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM67 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TMEM237 Ivone Leong gene: TMEM237 was added
gene: TMEM237 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM237 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TMEM231 Ivone Leong gene: TMEM231 was added
gene: TMEM231 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM231 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TMEM216 Ivone Leong gene: TMEM216 was added
gene: TMEM216 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM216 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TMEM138 Ivone Leong gene: TMEM138 was added
gene: TMEM138 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM138 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TMEM107 Ivone Leong gene: TMEM107 was added
gene: TMEM107 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM107 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TCTN3 Ivone Leong gene: TCTN3 was added
gene: TCTN3 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TCTN3 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TCTN2 Ivone Leong gene: TCTN2 was added
gene: TCTN2 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TCTN2 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 TCTN1 Ivone Leong gene: TCTN1 was added
gene: TCTN1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TCTN1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 SLC41A1 Ivone Leong gene: SLC41A1 was added
gene: SLC41A1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: SLC41A1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 SDCCAG8 Ivone Leong gene: SDCCAG8 was added
gene: SDCCAG8 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: SDCCAG8 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 SCLT1 Ivone Leong gene: SCLT1 was added
gene: SCLT1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 28005958; 30425282; 28486600; 30237576; 24285566
Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome type IX; Senior-Loken syndrome
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 RPGRIP1L Ivone Leong gene: RPGRIP1L was added
gene: RPGRIP1L was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: RPGRIP1L was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 PRKCSH Ivone Leong gene: PRKCSH was added
gene: PRKCSH was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: PRKCSH was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 POC1B Ivone Leong gene: POC1B was added
gene: POC1B was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: POC1B was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 PKHD1 Ivone Leong gene: PKHD1 was added
gene: PKHD1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: PKHD1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 PKD2 Ivone Leong gene: PKD2 was added
gene: PKD2 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: PKD2 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 PKD1 Ivone Leong gene: PKD1 was added
gene: PKD1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: PKD1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 PDE6D Ivone Leong gene: PDE6D was added
gene: PDE6D was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: PDE6D was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 OFD1 Ivone Leong gene: OFD1 was added
gene: OFD1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: OFD1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 NPHP4 Ivone Leong gene: NPHP4 was added
gene: NPHP4 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NPHP4 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 NPHP3 Ivone Leong gene: NPHP3 was added
gene: NPHP3 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NPHP3 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 NPHP1 Ivone Leong gene: NPHP1 was added
gene: NPHP1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NPHP1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 NEK8 Ivone Leong gene: NEK8 was added
gene: NEK8 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NEK8 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 NEK1 Ivone Leong gene: NEK1 was added
gene: NEK1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NEK1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 MUC1 Ivone Leong gene: MUC1 was added
gene: MUC1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: MUC1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 MKS1 Ivone Leong gene: MKS1 was added
gene: MKS1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: MKS1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 MKKS Ivone Leong gene: MKKS was added
gene: MKKS was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: MKKS was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 MAPKBP1 Ivone Leong gene: MAPKBP1 was added
gene: MAPKBP1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: MAPKBP1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 LZTFL1 Ivone Leong gene: LZTFL1 was added
gene: LZTFL1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: LZTFL1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 KIF7 Ivone Leong gene: KIF7 was added
gene: KIF7 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIF7 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 KIF14 Ivone Leong gene: KIF14 was added
gene: KIF14 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIF14 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 KIAA0753 Ivone Leong gene: KIAA0753 was added
gene: KIAA0753 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIAA0753 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 KIAA0586 Ivone Leong gene: KIAA0586 was added
gene: KIAA0586 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIAA0586 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 KIAA0556 Ivone Leong gene: KIAA0556 was added
gene: KIAA0556 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIAA0556 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 IQCB1 Ivone Leong gene: IQCB1 was added
gene: IQCB1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IQCB1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 INVS Ivone Leong gene: INVS was added
gene: INVS was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: INVS was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 INPP5E Ivone Leong gene: INPP5E was added
gene: INPP5E was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: INPP5E was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 IFT81 Ivone Leong gene: IFT81 was added
gene: IFT81 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT81 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 IFT74 Ivone Leong gene: IFT74 was added
gene: IFT74 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT74 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 IFT57 Ivone Leong gene: IFT57 was added
gene: IFT57 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT57 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 IFT43 Ivone Leong gene: IFT43 was added
gene: IFT43 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT43 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 IFT27 Ivone Leong gene: IFT27 was added
gene: IFT27 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT27 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 IFT172 Ivone Leong gene: IFT172 was added
gene: IFT172 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT172 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 IFT140 Ivone Leong gene: IFT140 was added
gene: IFT140 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT140 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 IFT122 Ivone Leong gene: IFT122 was added
gene: IFT122 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT122 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 HYLS1 Ivone Leong gene: HYLS1 was added
gene: HYLS1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: HYLS1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 HNF1B Ivone Leong gene: HNF1B was added
gene: HNF1B was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: HNF1B was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 GLIS2 Ivone Leong gene: GLIS2 was added
gene: GLIS2 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: GLIS2 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 GANAB Ivone Leong gene: GANAB was added
gene: GANAB was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: GANAB was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 FOXC1 Ivone Leong gene: FOXC1 was added
gene: FOXC1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: FOXC1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 FAN1 Ivone Leong gene: FAN1 was added
gene: FAN1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAN1 were set to PubMed: 22772369; 16678356; 8546134; 7847351
Phenotypes for gene: FAN1 were set to Interstitial nephritis, karyomegalic
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 EVC2 Ivone Leong gene: EVC2 was added
gene: EVC2 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: EVC2 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 EVC Ivone Leong gene: EVC was added
gene: EVC was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: EVC was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 DZIP1L Ivone Leong gene: DZIP1L was added
gene: DZIP1L was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DZIP1L were set to 28530676
Phenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, MIM#617610
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 DYNC2H1 Ivone Leong gene: DYNC2H1 was added
gene: DYNC2H1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: DYNC2H1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 DNAJB11 Ivone Leong gene: DNAJB11 was added
gene: DNAJB11 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJB11 were set to 29777155; 29706351
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 DDX59 Ivone Leong gene: DDX59 was added
gene: DDX59 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: DDX59 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 DCDC2 Ivone Leong gene: DCDC2 was added
gene: DCDC2 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: DCDC2 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 CSPP1 Ivone Leong gene: CSPP1 was added
gene: CSPP1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CSPP1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 CEP83 Ivone Leong gene: CEP83 was added
gene: CEP83 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP83 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 CEP41 Ivone Leong gene: CEP41 was added
gene: CEP41 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP41 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 CEP290 Ivone Leong gene: CEP290 was added
gene: CEP290 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP290 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 CEP164 Ivone Leong gene: CEP164 was added
gene: CEP164 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP164 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 CEP120 Ivone Leong gene: CEP120 was added
gene: CEP120 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP120 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 CEP104 Ivone Leong gene: CEP104 was added
gene: CEP104 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP104 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 CCDC28B Ivone Leong gene: CCDC28B was added
gene: CCDC28B was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CCDC28B was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 CC2D2A Ivone Leong gene: CC2D2A was added
gene: CC2D2A was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CC2D2A was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 C5orf42 Ivone Leong gene: C5orf42 was added
gene: C5orf42 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: C5orf42 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 C2CD3 Ivone Leong gene: C2CD3 was added
gene: C2CD3 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: C2CD3 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 BBS9 Ivone Leong gene: BBS9 was added
gene: BBS9 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS9 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 BBS7 Ivone Leong gene: BBS7 was added
gene: BBS7 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS7 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 BBS5 Ivone Leong gene: BBS5 was added
gene: BBS5 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS5 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 BBS4 Ivone Leong gene: BBS4 was added
gene: BBS4 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS4 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 BBS2 Ivone Leong gene: BBS2 was added
gene: BBS2 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS2 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 BBS12 Ivone Leong gene: BBS12 was added
gene: BBS12 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS12 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 BBS10 Ivone Leong gene: BBS10 was added
gene: BBS10 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS10 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 BBS1 Ivone Leong gene: BBS1 was added
gene: BBS1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 BBIP1 Ivone Leong gene: BBIP1 was added
gene: BBIP1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBIP1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 B9D2 Ivone Leong gene: B9D2 was added
gene: B9D2 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: B9D2 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 B9D1 Ivone Leong gene: B9D1 was added
gene: B9D1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: B9D1 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 ATXN10 Ivone Leong gene: ATXN10 was added
gene: ATXN10 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ATXN10 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 ARL6 Ivone Leong gene: ARL6 was added
gene: ARL6 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ARL6 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 ARL13B Ivone Leong gene: ARL13B was added
gene: ARL13B was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ARL13B was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 ANKS6 Ivone Leong gene: ANKS6 was added
gene: ANKS6 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ANKS6 was set to Unknown
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 AHI1 Ivone Leong gene: AHI1 was added
gene: AHI1 was added to Renal cystic disease_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHI1 were set to 16453322; PubMed: 15322546; 29146704; 15467982
Phenotypes for gene: AHI1 were set to Joubert syndrome 3, MIM#608629
Renal cystic disease_SuperPanel_KidGen_VCGS v0.0 Ivone Leong Added panel Renal cystic disease_SuperPanel_KidGen_VCGS
Renal tubulopathies_KidGen_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Renal tubulopathies_KidGen_VCGS v0.0 VPS33B Ivone Leong gene: VPS33B was added
gene: VPS33B was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: VPS33B was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 VIPAS39 Ivone Leong gene: VIPAS39 was added
gene: VIPAS39 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: VIPAS39 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 SLC7A9 Ivone Leong gene: SLC7A9 was added
gene: SLC7A9 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC7A9 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 SLC4A4 Ivone Leong gene: SLC4A4 was added
gene: SLC4A4 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC4A4 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 SLC4A1 Ivone Leong gene: SLC4A1 was added
gene: SLC4A1 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC4A1 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 SLC3A1 Ivone Leong gene: SLC3A1 was added
gene: SLC3A1 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC3A1 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 SLC34A1 Ivone Leong gene: SLC34A1 was added
gene: SLC34A1 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC34A1 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 SLC2A9 Ivone Leong gene: SLC2A9 was added
gene: SLC2A9 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC2A9 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 SLC2A2 Ivone Leong gene: SLC2A2 was added
gene: SLC2A2 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC2A2 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 SLC22A12 Ivone Leong gene: SLC22A12 was added
gene: SLC22A12 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC22A12 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 SLC12A3 Ivone Leong gene: SLC12A3 was added
gene: SLC12A3 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC12A3 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 SLC12A1 Ivone Leong gene: SLC12A1 was added
gene: SLC12A1 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC12A1 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 OCRL Ivone Leong gene: OCRL was added
gene: OCRL was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: OCRL was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 MAGED2 Ivone Leong gene: MAGED2 was added
gene: MAGED2 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: MAGED2 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 KCNJ10 Ivone Leong gene: KCNJ10 was added
gene: KCNJ10 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: KCNJ10 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 KCNJ1 Ivone Leong gene: KCNJ1 was added
gene: KCNJ1 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: KCNJ1 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 HNF4A Ivone Leong gene: HNF4A was added
gene: HNF4A was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: HNF4A was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 GATM Ivone Leong gene: GATM was added
gene: GATM was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: GATM was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 EHHADH Ivone Leong gene: EHHADH was added
gene: EHHADH was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: EHHADH was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 COQ9 Ivone Leong gene: COQ9 was added
gene: COQ9 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: COQ9 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 CLCNKB Ivone Leong gene: CLCNKB was added
gene: CLCNKB was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: CLCNKB was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 CLCNKA Ivone Leong gene: CLCNKA was added
gene: CLCNKA was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: CLCNKA was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 CLCN5 Ivone Leong gene: CLCN5 was added
gene: CLCN5 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: CLCN5 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 CA2 Ivone Leong gene: CA2 was added
gene: CA2 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: CA2 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 BSND Ivone Leong gene: BSND was added
gene: BSND was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: BSND was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 AVPR2 Ivone Leong gene: AVPR2 was added
gene: AVPR2 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: AVPR2 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 ATP6V1B1 Ivone Leong gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: ATP6V1B1 was set to Unknown
Renal tubulopathies_KidGen_VCGS v0.0 ATP6V0A4 Ivone Leong gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V0A4 were set to 10973252; 12414817
Phenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, MIM#602722
Renal tubulopathies_KidGen_VCGS v0.0 AQP2 Ivone Leong gene: AQP2 was added
gene: AQP2 was added to Renal tubulopathies_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AQP2 were set to 7537761; 11536078
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, MIM#125800
Renal tubulopathies_KidGen_VCGS v0.0 Ivone Leong Added panel Renal tubulopathies_KidGen_VCGS
Renal tubulointerstitial disease_KidGen_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Renal tubulointerstitial disease_KidGen_VCGS v0.0 UMOD Ivone Leong gene: UMOD was added
gene: UMOD was added to Renal tubulointerstitial disease_KidGen_VCGS. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green
Mode of inheritance for gene: UMOD was set to Unknown
Renal tubulointerstitial disease_KidGen_VCGS v0.0 SEC61A1 Ivone Leong gene: SEC61A1 was added
gene: SEC61A1 was added to Renal tubulointerstitial disease_KidGen_VCGS. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green
Mode of inheritance for gene: SEC61A1 was set to Unknown
Renal tubulointerstitial disease_KidGen_VCGS v0.0 REN Ivone Leong gene: REN was added
gene: REN was added to Renal tubulointerstitial disease_KidGen_VCGS. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green
Mode of inheritance for gene: REN was set to Unknown
Renal tubulointerstitial disease_KidGen_VCGS v0.0 MUC1 Ivone Leong gene: MUC1 was added
gene: MUC1 was added to Renal tubulointerstitial disease_KidGen_VCGS. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green
Mode of inheritance for gene: MUC1 was set to Unknown
Renal tubulointerstitial disease_KidGen_VCGS v0.0 HNF1B Ivone Leong gene: HNF1B was added
gene: HNF1B was added to Renal tubulointerstitial disease_KidGen_VCGS. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green
Mode of inheritance for gene: HNF1B was set to Unknown
Renal tubulointerstitial disease_KidGen_VCGS v0.0 DNAJB11 Ivone Leong gene: DNAJB11 was added
gene: DNAJB11 was added to Renal tubulointerstitial disease_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJB11 were set to 29777155; 29706351
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
Renal tubulointerstitial disease_KidGen_VCGS v0.0 Ivone Leong Added panel Renal tubulointerstitial disease_KidGen_VCGS
Renal tubular dysgenesis_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Renal tubular dysgenesis_VCGS v0.0 REN Ivone Leong gene: REN was added
gene: REN was added to Renal tubular dysgenesis_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Renal tubular dysgenesis_VCGS v0.0 AGTR1 Ivone Leong gene: AGTR1 was added
gene: AGTR1 was added to Renal tubular dysgenesis_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Renal tubular dysgenesis_VCGS v0.0 AGT Ivone Leong gene: AGT was added
gene: AGT was added to Renal tubular dysgenesis_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Renal tubular dysgenesis_VCGS v0.0 ACE Ivone Leong gene: ACE was added
gene: ACE was added to Renal tubular dysgenesis_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Renal tubular dysgenesis_VCGS v0.0 Ivone Leong Added panel Renal tubular dysgenesis_VCGS
Renal macrocystic disease_KidGen_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Renal macrocystic disease_KidGen_VCGS v0.0 SEC63 Ivone Leong gene: SEC63 was added
gene: SEC63 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC63 were set to 15133510
Phenotypes for gene: SEC63 were set to Polycystic liver disease 2, MIM#617004
Renal macrocystic disease_KidGen_VCGS v0.0 UMOD Ivone Leong gene: UMOD was added
gene: UMOD was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert Review Green,KidGen_Cystic v38.1.0
Mode of inheritance for gene: UMOD was set to Unknown
Renal macrocystic disease_KidGen_VCGS v0.0 TSC2 Ivone Leong gene: TSC2 was added
gene: TSC2 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert Review Green,KidGen_Cystic v38.1.0
Mode of inheritance for gene: TSC2 was set to Unknown
Renal macrocystic disease_KidGen_VCGS v0.0 TSC1 Ivone Leong gene: TSC1 was added
gene: TSC1 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert Review Green,KidGen_Cystic v38.1.0
Mode of inheritance for gene: TSC1 was set to Unknown
Renal macrocystic disease_KidGen_VCGS v0.0 PRKCSH Ivone Leong gene: PRKCSH was added
gene: PRKCSH was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert Review Green,KidGen_Cystic v38.1.0
Mode of inheritance for gene: PRKCSH was set to Unknown
Renal macrocystic disease_KidGen_VCGS v0.0 PKHD1 Ivone Leong gene: PKHD1 was added
gene: PKHD1 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert Review Green,KidGen_Cystic v38.1.0
Mode of inheritance for gene: PKHD1 was set to Unknown
Renal macrocystic disease_KidGen_VCGS v0.0 PKD2 Ivone Leong gene: PKD2 was added
gene: PKD2 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert Review Green,KidGen_Cystic v38.1.0
Mode of inheritance for gene: PKD2 was set to Unknown
Renal macrocystic disease_KidGen_VCGS v0.0 PKD1 Ivone Leong gene: PKD1 was added
gene: PKD1 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert Review Green,KidGen_Cystic v38.1.0
Mode of inheritance for gene: PKD1 was set to Unknown
Renal macrocystic disease_KidGen_VCGS v0.0 MUC1 Ivone Leong gene: MUC1 was added
gene: MUC1 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert Review Green,KidGen_Cystic v38.1.0
Mode of inheritance for gene: MUC1 was set to Unknown
Renal macrocystic disease_KidGen_VCGS v0.0 HNF1B Ivone Leong gene: HNF1B was added
gene: HNF1B was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert Review Green,KidGen_Cystic v38.1.0
Mode of inheritance for gene: HNF1B was set to Unknown
Renal macrocystic disease_KidGen_VCGS v0.0 GANAB Ivone Leong gene: GANAB was added
gene: GANAB was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert Review Green,KidGen_Cystic v38.1.0
Mode of inheritance for gene: GANAB was set to Unknown
Renal macrocystic disease_KidGen_VCGS v0.0 DZIP1L Ivone Leong gene: DZIP1L was added
gene: DZIP1L was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DZIP1L were set to 28530676
Phenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, MIM#617610
Renal macrocystic disease_KidGen_VCGS v0.0 DNAJB11 Ivone Leong gene: DNAJB11 was added
gene: DNAJB11 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJB11 were set to 29777155; 29706351
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
Renal macrocystic disease_KidGen_VCGS v0.0 Ivone Leong Added panel Renal macrocystic disease_KidGen_VCGS
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 WNK4 Ivone Leong gene: WNK4 was added
gene: WNK4 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: WNK4 was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 WNK1 Ivone Leong gene: WNK1 was added
gene: WNK1 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: WNK1 was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 STX16 Ivone Leong gene: STX16 was added
gene: STX16 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: STX16 was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 SCNN1G Ivone Leong gene: SCNN1G was added
gene: SCNN1G was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: SCNN1G was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 SCNN1B Ivone Leong gene: SCNN1B was added
gene: SCNN1B was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: SCNN1B was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 SCNN1A Ivone Leong gene: SCNN1A was added
gene: SCNN1A was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: SCNN1A was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 PDE3A Ivone Leong gene: PDE3A was added
gene: PDE3A was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: PDE3A was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 NR3C2 Ivone Leong gene: NR3C2 was added
gene: NR3C2 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: NR3C2 was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 KLHL3 Ivone Leong gene: KLHL3 was added
gene: KLHL3 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: KLHL3 was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 KCNJ5 Ivone Leong gene: KCNJ5 was added
gene: KCNJ5 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: KCNJ5 was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 HSD11B2 Ivone Leong gene: HSD11B2 was added
gene: HSD11B2 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: HSD11B2 was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 CYP11B2 Ivone Leong gene: CYP11B2 was added
gene: CYP11B2 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: CYP11B2 was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 CUL3 Ivone Leong gene: CUL3 was added
gene: CUL3 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: CUL3 was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 CLCN2 Ivone Leong gene: CLCN2 was added
gene: CLCN2 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: CLCN2 was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 CACNA1H Ivone Leong gene: CACNA1H was added
gene: CACNA1H was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: CACNA1H was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 CACNA1D Ivone Leong gene: CACNA1D was added
gene: CACNA1D was added to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: CACNA1D was set to Unknown
Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS v0.0 Ivone Leong Added panel Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 SEMA3A Ivone Leong gene: SEMA3A was added
gene: SEMA3A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEMA3A was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 FOXC1 Ivone Leong gene: FOXC1 was added
gene: FOXC1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXC1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 EZH2 Ivone Leong gene: EZH2 was added
gene: EZH2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: EZH2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 DACT1 Ivone Leong gene: DACT1 was added
gene: DACT1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DACT1 were set to 28054444
Phenotypes for gene: DACT1 were set to Townes-Brocks syndrome 2, MIM#617466
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 ZIC3 Ivone Leong gene: ZIC3 was added
gene: ZIC3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked, MIM#314390
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 WNT5A Ivone Leong gene: WNT5A was added
gene: WNT5A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1, MIM#180700
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 TFAP2A Ivone Leong gene: TFAP2A was added
gene: TFAP2A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TFAP2A was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 STRA6 Ivone Leong gene: STRA6 was added
gene: STRA6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, MIM#601186
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 SIX5 Ivone Leong gene: SIX5 was added
gene: SIX5 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SIX5 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 SIX1 Ivone Leong gene: SIX1 was added
gene: SIX1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SIX1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 SALL4 Ivone Leong gene: SALL4 was added
gene: SALL4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SALL4 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 SALL1 Ivone Leong gene: SALL1 was added
gene: SALL1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SALL1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 ROR2 Ivone Leong gene: ROR2 was added
gene: ROR2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ROR2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 PBX1 Ivone Leong gene: PBX1 was added
gene: PBX1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PBX1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 NOTCH2 Ivone Leong gene: NOTCH2 was added
gene: NOTCH2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NOTCH2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 NIPBL Ivone Leong gene: NIPBL was added
gene: NIPBL was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NIPBL was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 MYOCD Ivone Leong gene: MYOCD was added
gene: MYOCD was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYOCD were set to 31513549
Phenotypes for gene: MYOCD were set to cardiomyopathy; congenital heart disease; Megabladder
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 LRP4 Ivone Leong gene: LRP4 was added
gene: LRP4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LRP4 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 KYNU Ivone Leong gene: KYNU was added
gene: KYNU was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 28792876
Phenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 KMT2D Ivone Leong gene: KMT2D was added
gene: KMT2D was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KMT2D was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 KDM6A Ivone Leong gene: KDM6A was added
gene: KDM6A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KDM6A was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 JAG1 Ivone Leong gene: JAG1 was added
gene: JAG1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: JAG1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 HOXA13 Ivone Leong gene: HOXA13 was added
gene: HOXA13 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HOXA13 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 HAAO Ivone Leong gene: HAAO was added
gene: HAAO was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 GRIP1 Ivone Leong gene: GRIP1 was added
gene: GRIP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GRIP1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 GPC3 Ivone Leong gene: GPC3 was added
gene: GPC3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GPC3 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 GLI3 Ivone Leong gene: GLI3 was added
gene: GLI3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GLI3 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 FREM2 Ivone Leong gene: FREM2 was added
gene: FREM2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FREM2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 FREM1 Ivone Leong gene: FREM1 was added
gene: FREM1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FREM1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 FRAS1 Ivone Leong gene: FRAS1 was added
gene: FRAS1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FRAS1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 FOXC2 Ivone Leong gene: FOXC2 was added
gene: FOXC2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FOXC2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 FGFR3 Ivone Leong gene: FGFR3 was added
gene: FGFR3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to LADD syndrome, MIM#149730
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 FGFR2 Ivone Leong gene: FGFR2 was added
gene: FGFR2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FGFR2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 FGF10 Ivone Leong gene: FGF10 was added
gene: FGF10 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FGF10 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 FAM58A Ivone Leong gene: FAM58A was added
gene: FAM58A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FAM58A was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 EYA1 Ivone Leong gene: EYA1 was added
gene: EYA1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: EYA1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 EXOC3L2 Ivone Leong gene: EXOC3L2 was added
gene: EXOC3L2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Literature
Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC3L2 were set to 30327448; 28749478; 27894351
Phenotypes for gene: EXOC3L2 were set to bone marrow failure; Dandy-Walker malformation; renal dysplasia
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 DHCR7 Ivone Leong gene: DHCR7 was added
gene: DHCR7 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 CTU2 Ivone Leong gene: CTU2 was added
gene: CTU2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Expert list
Mode of inheritance for gene: CTU2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 COQ7 Ivone Leong gene: COQ7 was added
gene: COQ7 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to 31240163; 28409910; 26084283
Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8, MIM#616733
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 CHD7 Ivone Leong gene: CHD7 was added
gene: CHD7 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CHD7 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 CEP55 Ivone Leong gene: CEP55 was added
gene: CEP55 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 28264986; 28295209; 30622327
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 CENPF Ivone Leong gene: CENPF was added
gene: CENPF was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPF were set to Stromme syndrome, MIM#243605
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 BMP4 Ivone Leong gene: BMP4 was added
gene: BMP4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BMP4 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 ANOS1 Ivone Leong gene: ANOS1 was added
gene: ANOS1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ANOS1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS v0.0 Ivone Leong Added panel Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 UPK3A Ivone Leong gene: UPK3A was added
gene: UPK3A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: UPK3A was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 UMOD Ivone Leong gene: UMOD was added
gene: UMOD was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: UMOD was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 NPHP3 Ivone Leong gene: NPHP3 was added
gene: NPHP3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: NPHP3 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 HOXB6 Ivone Leong gene: HOXB6 was added
gene: HOXB6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: HOXB6 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 HOXA4 Ivone Leong gene: HOXA4 was added
gene: HOXA4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: HOXA4 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 FGFR1 Ivone Leong gene: FGFR1 was added
gene: FGFR1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: FGFR1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 CDX2 Ivone Leong gene: CDX2 was added
gene: CDX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: CDX2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 SOX11 Ivone Leong gene: SOX11 was added
gene: SOX11 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX11 were set to 24886874; 29459093
Phenotypes for gene: SOX11 were set to Congenital abnormalities of the kidneys and urinary tract
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 FGF20 Ivone Leong gene: FGF20 was added
gene: FGF20 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Amber,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
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 CDC5L Ivone Leong gene: CDC5L was added
gene: CDC5L was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Amber,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
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 BMP7 Ivone Leong gene: BMP7 was added
gene: BMP7 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Amber,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
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 WNT4 Ivone Leong gene: WNT4 was added
gene: WNT4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: WNT4 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 TRAP1 Ivone Leong gene: TRAP1 was added
gene: TRAP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TRAP1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 TNXB Ivone Leong gene: TNXB was added
gene: TNXB was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TNXB was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 TBX18 Ivone Leong gene: TBX18 was added
gene: TBX18 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TBX18 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 TBC1D1 Ivone Leong gene: TBC1D1 was added
gene: TBC1D1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TBC1D1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 SRGAP1 Ivone Leong gene: SRGAP1 was added
gene: SRGAP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SRGAP1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 SOX17 Ivone Leong gene: SOX17 was added
gene: SOX17 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SOX17 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 SLIT2 Ivone Leong gene: SLIT2 was added
gene: SLIT2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLIT2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 SIX2 Ivone Leong gene: SIX2 was added
gene: SIX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SIX2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 ROBO2 Ivone Leong gene: ROBO2 was added
gene: ROBO2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ROBO2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 RET Ivone Leong gene: RET was added
gene: RET was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: RET was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 PAX2 Ivone Leong gene: PAX2 was added
gene: PAX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PAX2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 LRIG2 Ivone Leong gene: LRIG2 was added
gene: LRIG2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LRIG2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 LIFR Ivone Leong gene: LIFR was added
gene: LIFR was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LIFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LIFR were set to 28334964
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 ITGA8 Ivone Leong gene: ITGA8 was added
gene: ITGA8 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ITGA8 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 HPSE2 Ivone Leong gene: HPSE2 was added
gene: HPSE2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPSE2 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 HNF1B Ivone Leong gene: HNF1B was added
gene: HNF1B was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HNF1B was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 GREB1L Ivone Leong gene: GREB1L was added
gene: GREB1L was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GREB1L was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 GATA3 Ivone Leong gene: GATA3 was added
gene: GATA3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GATA3 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 FGF8 Ivone Leong gene: FGF8 was added
gene: FGF8 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FGF8 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 DSTYK Ivone Leong gene: DSTYK was added
gene: DSTYK was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DSTYK was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 CHD1L Ivone Leong gene: CHD1L was added
gene: CHD1L was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CHD1L was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 BICC1 Ivone Leong gene: BICC1 was added
gene: BICC1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BICC1 was set to Unknown
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS v0.0 Ivone Leong Added panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.1 Ivone Leong Panel status changed from internal to public
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 VTN Ivone Leong gene: VTN was added
gene: VTN was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Victorian Clinical Genetics Services,Expert Review Amber
Mode of inheritance for gene: VTN was set to Unknown
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 THBD Ivone Leong gene: THBD was added
gene: THBD was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: THBD was set to Unknown
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 MMACHC Ivone Leong gene: MMACHC was added
gene: MMACHC was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 DGKE Ivone Leong gene: DGKE was added
gene: DGKE was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DGKE was set to Unknown
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 CFI Ivone Leong gene: CFI was added
gene: CFI was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CFI was set to Unknown
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 CFHR5 Ivone Leong gene: CFHR5 was added
gene: CFHR5 was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CFHR5 was set to Unknown
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 CFHR3 Ivone Leong gene: CFHR3 was added
gene: CFHR3 was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CFHR3 was set to Unknown
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 CFHR1 Ivone Leong gene: CFHR1 was added
gene: CFHR1 was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CFHR1 was set to Unknown
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 CFH Ivone Leong gene: CFH was added
gene: CFH was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CFH was set to Unknown
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 CFB Ivone Leong gene: CFB was added
gene: CFB was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CFB was set to Unknown
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 CD46 Ivone Leong gene: CD46 was added
gene: CD46 was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CD46 was set to Unknown
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 C3 Ivone Leong gene: C3 was added
gene: C3 was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: C3 was set to Unknown
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 ADAMTS13 Ivone Leong gene: ADAMTS13 was added
gene: ADAMTS13 was added to Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ADAMTS13 was set to Unknown
Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH v0.0 Ivone Leong Added panel Atypical Haemolytic Uraemic Syndrome_KidGen_VCGS_RMH
Alport syndrome_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Alport syndrome_VCGS v0.0 CD151 Ivone Leong gene: CD151 was added
gene: CD151 was added to Alport syndrome_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Red
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 29138120; 15265795
Phenotypes for gene: CD151 were set to Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Alport syndrome_VCGS v0.0 MYH9 Ivone Leong gene: MYH9 was added
gene: MYH9 was added to Alport syndrome_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYH9 was set to Unknown
Alport syndrome_VCGS v0.0 COL4A5 Ivone Leong gene: COL4A5 was added
gene: COL4A5 was added to Alport syndrome_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A5 was set to Unknown
Alport syndrome_VCGS v0.0 COL4A4 Ivone Leong gene: COL4A4 was added
gene: COL4A4 was added to Alport syndrome_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A4 was set to Unknown
Alport syndrome_VCGS v0.0 COL4A3 Ivone Leong gene: COL4A3 was added
gene: COL4A3 was added to Alport syndrome_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A3 was set to Unknown
Alport syndrome_VCGS v0.0 COL4A1 Ivone Leong gene: COL4A1 was added
gene: COL4A1 was added to Alport syndrome_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773
Alport syndrome_VCGS v0.0 Ivone Leong Added panel Alport syndrome_VCGS
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 ZNF423 Ivone Leong gene: ZNF423 was added
gene: ZNF423 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ZNF423 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 XPNPEP3 Ivone Leong gene: XPNPEP3 was added
gene: XPNPEP3 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: XPNPEP3 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 WDR60 Ivone Leong gene: WDR60 was added
gene: WDR60 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDR60 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 WDR35 Ivone Leong gene: WDR35 was added
gene: WDR35 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDR35 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 WDR34 Ivone Leong gene: WDR34 was added
gene: WDR34 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDR34 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 WDR19 Ivone Leong gene: WDR19 was added
gene: WDR19 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDR19 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 WDPCP Ivone Leong gene: WDPCP was added
gene: WDPCP was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: WDPCP was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TXNDC15 Ivone Leong gene: TXNDC15 was added
gene: TXNDC15 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TXNDC15 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TTC8 Ivone Leong gene: TTC8 was added
gene: TTC8 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TTC8 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TTC21B Ivone Leong gene: TTC21B was added
gene: TTC21B was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TTC21B was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TRIM32 Ivone Leong gene: TRIM32 was added
gene: TRIM32 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TRIM32 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TRAF3IP1 Ivone Leong gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TRAF3IP1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TMEM67 Ivone Leong gene: TMEM67 was added
gene: TMEM67 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM67 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TMEM237 Ivone Leong gene: TMEM237 was added
gene: TMEM237 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM237 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TMEM231 Ivone Leong gene: TMEM231 was added
gene: TMEM231 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM231 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TMEM216 Ivone Leong gene: TMEM216 was added
gene: TMEM216 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM216 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TMEM138 Ivone Leong gene: TMEM138 was added
gene: TMEM138 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM138 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TMEM107 Ivone Leong gene: TMEM107 was added
gene: TMEM107 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TMEM107 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TCTN3 Ivone Leong gene: TCTN3 was added
gene: TCTN3 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TCTN3 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TCTN2 Ivone Leong gene: TCTN2 was added
gene: TCTN2 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TCTN2 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 TCTN1 Ivone Leong gene: TCTN1 was added
gene: TCTN1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: TCTN1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 SLC41A1 Ivone Leong gene: SLC41A1 was added
gene: SLC41A1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: SLC41A1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 SDCCAG8 Ivone Leong gene: SDCCAG8 was added
gene: SDCCAG8 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: SDCCAG8 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 SCLT1 Ivone Leong gene: SCLT1 was added
gene: SCLT1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 28486600; 30425282; 24285566; 28005958; 30237576
Phenotypes for gene: SCLT1 were set to Orofaciodigital syndrome type IX; Senior-Loken syndrome
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 RPGRIP1L Ivone Leong gene: RPGRIP1L was added
gene: RPGRIP1L was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: RPGRIP1L was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 POC1B Ivone Leong gene: POC1B was added
gene: POC1B was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: POC1B was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 PDE6D Ivone Leong gene: PDE6D was added
gene: PDE6D was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: PDE6D was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 OFD1 Ivone Leong gene: OFD1 was added
gene: OFD1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: OFD1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 NPHP4 Ivone Leong gene: NPHP4 was added
gene: NPHP4 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NPHP4 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 NPHP3 Ivone Leong gene: NPHP3 was added
gene: NPHP3 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NPHP3 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 NPHP1 Ivone Leong gene: NPHP1 was added
gene: NPHP1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NPHP1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 NEK8 Ivone Leong gene: NEK8 was added
gene: NEK8 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NEK8 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 NEK1 Ivone Leong gene: NEK1 was added
gene: NEK1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: NEK1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 MKS1 Ivone Leong gene: MKS1 was added
gene: MKS1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: MKS1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 MKKS Ivone Leong gene: MKKS was added
gene: MKKS was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: MKKS was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 MAPKBP1 Ivone Leong gene: MAPKBP1 was added
gene: MAPKBP1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: MAPKBP1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 LZTFL1 Ivone Leong gene: LZTFL1 was added
gene: LZTFL1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: LZTFL1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 KIF7 Ivone Leong gene: KIF7 was added
gene: KIF7 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIF7 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 KIF14 Ivone Leong gene: KIF14 was added
gene: KIF14 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIF14 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 KIAA0753 Ivone Leong gene: KIAA0753 was added
gene: KIAA0753 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIAA0753 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 KIAA0586 Ivone Leong gene: KIAA0586 was added
gene: KIAA0586 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIAA0586 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 KIAA0556 Ivone Leong gene: KIAA0556 was added
gene: KIAA0556 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: KIAA0556 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 IQCB1 Ivone Leong gene: IQCB1 was added
gene: IQCB1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IQCB1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 INVS Ivone Leong gene: INVS was added
gene: INVS was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: INVS was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 INPP5E Ivone Leong gene: INPP5E was added
gene: INPP5E was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: INPP5E was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 IFT81 Ivone Leong gene: IFT81 was added
gene: IFT81 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT81 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 IFT74 Ivone Leong gene: IFT74 was added
gene: IFT74 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT74 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 IFT57 Ivone Leong gene: IFT57 was added
gene: IFT57 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT57 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 IFT43 Ivone Leong gene: IFT43 was added
gene: IFT43 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT43 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 IFT27 Ivone Leong gene: IFT27 was added
gene: IFT27 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT27 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 IFT172 Ivone Leong gene: IFT172 was added
gene: IFT172 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT172 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 IFT140 Ivone Leong gene: IFT140 was added
gene: IFT140 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT140 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 IFT122 Ivone Leong gene: IFT122 was added
gene: IFT122 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: IFT122 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 HYLS1 Ivone Leong gene: HYLS1 was added
gene: HYLS1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: HYLS1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 GLIS2 Ivone Leong gene: GLIS2 was added
gene: GLIS2 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: GLIS2 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 FOXC1 Ivone Leong gene: FOXC1 was added
gene: FOXC1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: FOXC1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 FAN1 Ivone Leong gene: FAN1 was added
gene: FAN1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAN1 were set to PubMed: 22772369; 8546134; 7847351; 16678356
Phenotypes for gene: FAN1 were set to Interstitial nephritis, karyomegalic
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 EVC2 Ivone Leong gene: EVC2 was added
gene: EVC2 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: EVC2 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 EVC Ivone Leong gene: EVC was added
gene: EVC was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: EVC was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 DYNC2H1 Ivone Leong gene: DYNC2H1 was added
gene: DYNC2H1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: DYNC2H1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 DDX59 Ivone Leong gene: DDX59 was added
gene: DDX59 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: DDX59 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 DCDC2 Ivone Leong gene: DCDC2 was added
gene: DCDC2 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: DCDC2 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 CSPP1 Ivone Leong gene: CSPP1 was added
gene: CSPP1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CSPP1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 CEP83 Ivone Leong gene: CEP83 was added
gene: CEP83 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP83 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 CEP41 Ivone Leong gene: CEP41 was added
gene: CEP41 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP41 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 CEP290 Ivone Leong gene: CEP290 was added
gene: CEP290 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP290 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 CEP164 Ivone Leong gene: CEP164 was added
gene: CEP164 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP164 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 CEP120 Ivone Leong gene: CEP120 was added
gene: CEP120 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP120 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 CEP104 Ivone Leong gene: CEP104 was added
gene: CEP104 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CEP104 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 CCDC28B Ivone Leong gene: CCDC28B was added
gene: CCDC28B was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CCDC28B was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 CC2D2A Ivone Leong gene: CC2D2A was added
gene: CC2D2A was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: CC2D2A was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 C5orf42 Ivone Leong gene: C5orf42 was added
gene: C5orf42 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: C5orf42 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 C2CD3 Ivone Leong gene: C2CD3 was added
gene: C2CD3 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: C2CD3 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 BBS9 Ivone Leong gene: BBS9 was added
gene: BBS9 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS9 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 BBS7 Ivone Leong gene: BBS7 was added
gene: BBS7 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS7 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 BBS5 Ivone Leong gene: BBS5 was added
gene: BBS5 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS5 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 BBS4 Ivone Leong gene: BBS4 was added
gene: BBS4 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS4 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 BBS2 Ivone Leong gene: BBS2 was added
gene: BBS2 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS2 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 BBS12 Ivone Leong gene: BBS12 was added
gene: BBS12 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS12 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 BBS10 Ivone Leong gene: BBS10 was added
gene: BBS10 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS10 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 BBS1 Ivone Leong gene: BBS1 was added
gene: BBS1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBS1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 BBIP1 Ivone Leong gene: BBIP1 was added
gene: BBIP1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: BBIP1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 B9D2 Ivone Leong gene: B9D2 was added
gene: B9D2 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: B9D2 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 B9D1 Ivone Leong gene: B9D1 was added
gene: B9D1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: B9D1 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 ATXN10 Ivone Leong gene: ATXN10 was added
gene: ATXN10 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ATXN10 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 ARL6 Ivone Leong gene: ARL6 was added
gene: ARL6 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ARL6 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 ARL13B Ivone Leong gene: ARL13B was added
gene: ARL13B was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ARL13B was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 ANKS6 Ivone Leong gene: ANKS6 was added
gene: ANKS6 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0
Mode of inheritance for gene: ANKS6 was set to Unknown
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 AHI1 Ivone Leong gene: AHI1 was added
gene: AHI1 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHI1 were set to 29146704; 16453322; 15467982; PubMed: 15322546
Phenotypes for gene: AHI1 were set to Joubert syndrome 3, MIM#608629
Renal ciliopathies and nephronophthisis_KidGen_VCGS v0.0 Ivone Leong Added panel Renal ciliopathies and nephronophthisis_KidGen_VCGS
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 TRPM6 Ivone Leong gene: TRPM6 was added
gene: TRPM6 was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: TRPM6 was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 SLC12A3 Ivone Leong gene: SLC12A3 was added
gene: SLC12A3 was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC12A3 was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 SARS2 Ivone Leong gene: SARS2 was added
gene: SARS2 was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: SARS2 was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 PCBD1 Ivone Leong gene: PCBD1 was added
gene: PCBD1 was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: PCBD1 was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 KCNJ10 Ivone Leong gene: KCNJ10 was added
gene: KCNJ10 was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 KCNA1 Ivone Leong gene: KCNA1 was added
gene: KCNA1 was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: KCNA1 was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 HNF1B Ivone Leong gene: HNF1B was added
gene: HNF1B was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF1B were set to 27234911
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM#137920
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 FXYD2 Ivone Leong gene: FXYD2 was added
gene: FXYD2 was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: FXYD2 was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 FAM111A Ivone Leong gene: FAM111A was added
gene: FAM111A was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: FAM111A was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 EGFR Ivone Leong gene: EGFR was added
gene: EGFR was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: EGFR was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 EGF Ivone Leong gene: EGF was added
gene: EGF was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: EGF was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 CNNM2 Ivone Leong gene: CNNM2 was added
gene: CNNM2 was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CNNM2 was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 CLDN19 Ivone Leong gene: CLDN19 was added
gene: CLDN19 was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CLDN19 was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 CLDN16 Ivone Leong gene: CLDN16 was added
gene: CLDN16 was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CLDN16 was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 CLDN10 Ivone Leong gene: CLDN10 was added
gene: CLDN10 was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CLDN10 was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 CLCNKB Ivone Leong gene: CLCNKB was added
gene: CLCNKB was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CLCNKB was set to Unknown
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 CASR Ivone Leong gene: CASR was added
gene: CASR was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CASR were set to 27234911; 8813042
Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 BSND Ivone Leong gene: BSND was added
gene: BSND was added to Renal abnormalities of magnesium metabolism_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSND were set to 27234911; 11687798
Phenotypes for gene: BSND were set to Bartter syndrome, Type 4a, MIM#602522
Renal abnormalities of magnesium metabolism_KidGen_VCGS v0.0 Ivone Leong Added panel Renal abnormalities of magnesium metabolism_KidGen_VCGS
Proteinuria_VCGS_KidGen v0.1 Ivone Leong Panel status changed from internal to public
Proteinuria_VCGS_KidGen v0.0 TTC21B Ivone Leong gene: TTC21B was added
gene: TTC21B was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Nephronophthisis 12, MIM#613820
Proteinuria_VCGS_KidGen v0.0 NUP37 Ivone Leong gene: NUP37 was added
gene: NUP37 was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Red,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
Proteinuria_VCGS_KidGen v0.0 NUP205 Ivone Leong gene: NUP205 was added
gene: NUP205 was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Red,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
Proteinuria_VCGS_KidGen v0.0 NUP160 Ivone Leong gene: NUP160 was added
gene: NUP160 was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Red,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
Proteinuria_VCGS_KidGen v0.0 LMNA Ivone Leong gene: LMNA was added
gene: LMNA was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to 24080738
Phenotypes for gene: LMNA were set to Familial partial lipodystrophy; FSGS
Proteinuria_VCGS_KidGen v0.0 ITGB4 Ivone Leong gene: ITGB4 was added
gene: ITGB4 was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGB4 were set to 10873890
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730
Proteinuria_VCGS_KidGen v0.0 COQ8A Ivone Leong gene: COQ8A was added
gene: COQ8A was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ8A was set to Unknown
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, MIM#612016
Proteinuria_VCGS_KidGen v0.0 XPO5 Ivone Leong gene: XPO5 was added
gene: XPO5 was added to Proteinuria_VCGS_KidGen. Sources: Expert list,Expert Review Amber
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
Proteinuria_VCGS_KidGen v0.0 KANK4 Ivone Leong gene: KANK4 was added
gene: KANK4 was added to Proteinuria_VCGS_KidGen. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: KANK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK4 were set to 25961457
Proteinuria_VCGS_KidGen v0.0 KANK1 Ivone Leong gene: KANK1 was added
gene: KANK1 was added to Proteinuria_VCGS_KidGen. Sources: Expert list,Expert Review Amber
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
Proteinuria_VCGS_KidGen v0.0 APOL1 Ivone Leong gene: APOL1 was added
gene: APOL1 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Amber
Mode of inheritance for gene: APOL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOL1 were set to 20635188; 24206458; 20647424
Phenotypes for gene: APOL1 were set to {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551
Proteinuria_VCGS_KidGen v0.0 WT1 Ivone Leong gene: WT1 was added
gene: WT1 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: WT1 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 WDR73 Ivone Leong gene: WDR73 was added
gene: WDR73 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: WDR73 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 TRPC6 Ivone Leong gene: TRPC6 was added
gene: TRPC6 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TRPC6 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 TPRKB Ivone Leong gene: TPRKB was added
gene: TPRKB was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TPRKB was set to Unknown
Proteinuria_VCGS_KidGen v0.0 TP53RK Ivone Leong gene: TP53RK was added
gene: TP53RK was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TP53RK was set to Unknown
Proteinuria_VCGS_KidGen v0.0 TBC1D8B Ivone Leong gene: TBC1D8B was added
gene: TBC1D8B was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: TBC1D8B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TBC1D8B were set to 30661770
Phenotypes for gene: TBC1D8B were set to Nephrotic syndrome, type 20, MIM# 301028
Proteinuria_VCGS_KidGen v0.0 SMARCAL1 Ivone Leong gene: SMARCAL1 was added
gene: SMARCAL1 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 SGPL1 Ivone Leong gene: SGPL1 was added
gene: SGPL1 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SGPL1 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 SCARB2 Ivone Leong gene: SCARB2 was added
gene: SCARB2 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SCARB2 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 PTPRO Ivone Leong gene: PTPRO was added
gene: PTPRO was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PTPRO was set to Unknown
Proteinuria_VCGS_KidGen v0.0 PLCE1 Ivone Leong gene: PLCE1 was added
gene: PLCE1 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PLCE1 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 PDSS2 Ivone Leong gene: PDSS2 was added
gene: PDSS2 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PDSS2 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 PAX2 Ivone Leong gene: PAX2 was added
gene: PAX2 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAX2 were set to 24676634
Phenotypes for gene: PAX2 were set to Glomerulosclerosis, focal segmental, 7, MIM#616002
Proteinuria_VCGS_KidGen v0.0 OSGEP Ivone Leong gene: OSGEP was added
gene: OSGEP was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: OSGEP was set to Unknown
Proteinuria_VCGS_KidGen v0.0 OCRL Ivone Leong gene: OCRL was added
gene: OCRL was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Green,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
Proteinuria_VCGS_KidGen v0.0 NUP93 Ivone Leong gene: NUP93 was added
gene: NUP93 was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Green,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
Proteinuria_VCGS_KidGen v0.0 NUP85 Ivone Leong gene: NUP85 was added
gene: NUP85 was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Green,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
Proteinuria_VCGS_KidGen v0.0 NUP133 Ivone Leong gene: NUP133 was added
gene: NUP133 was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Green,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
Proteinuria_VCGS_KidGen v0.0 NUP107 Ivone Leong gene: NUP107 was added
gene: NUP107 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NUP107 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 NPHS2 Ivone Leong gene: NPHS2 was added
gene: NPHS2 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NPHS2 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 NPHS1 Ivone Leong gene: NPHS1 was added
gene: NPHS1 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: NPHS1 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 MYO1E Ivone Leong gene: MYO1E was added
gene: MYO1E was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYO1E was set to Unknown
Proteinuria_VCGS_KidGen v0.0 MYH9 Ivone Leong gene: MYH9 was added
gene: MYH9 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MYH9 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 MAGI2 Ivone Leong gene: MAGI2 was added
gene: MAGI2 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MAGI2 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 LMX1B Ivone Leong gene: LMX1B was added
gene: LMX1B was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LMX1B was set to Unknown
Proteinuria_VCGS_KidGen v0.0 LAMB2 Ivone Leong gene: LAMB2 was added
gene: LAMB2 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 LAMA5 Ivone Leong gene: LAMA5 was added
gene: LAMA5 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA5 were set to 29534211
Phenotypes for gene: LAMA5 were set to Nephrotic syndrome
Proteinuria_VCGS_KidGen v0.0 LAGE3 Ivone Leong gene: LAGE3 was added
gene: LAGE3 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LAGE3 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 KANK2 Ivone Leong gene: KANK2 was added
gene: KANK2 was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Green,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
Proteinuria_VCGS_KidGen v0.0 ITGA3 Ivone Leong gene: ITGA3 was added
gene: ITGA3 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ITGA3 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 INF2 Ivone Leong gene: INF2 was added
gene: INF2 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: INF2 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 FAT1 Ivone Leong gene: FAT1 was added
gene: FAT1 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FAT1 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 EMP2 Ivone Leong gene: EMP2 was added
gene: EMP2 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: EMP2 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 DGKE Ivone Leong gene: DGKE was added
gene: DGKE was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: DGKE was set to Unknown
Proteinuria_VCGS_KidGen v0.0 CUBN Ivone Leong gene: CUBN was added
gene: CUBN was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CUBN was set to Unknown
Proteinuria_VCGS_KidGen v0.0 CRB2 Ivone Leong gene: CRB2 was added
gene: CRB2 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CRB2 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 COQ8B Ivone Leong gene: COQ8B was added
gene: COQ8B was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Green,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
Proteinuria_VCGS_KidGen v0.0 COQ6 Ivone Leong gene: COQ6 was added
gene: COQ6 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COQ6 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 COQ2 Ivone Leong gene: COQ2 was added
gene: COQ2 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COQ2 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 COL4A5 Ivone Leong gene: COL4A5 was added
gene: COL4A5 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A5 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 COL4A4 Ivone Leong gene: COL4A4 was added
gene: COL4A4 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A4 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 COL4A3 Ivone Leong gene: COL4A3 was added
gene: COL4A3 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: COL4A3 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 CLCN5 Ivone Leong gene: CLCN5 was added
gene: CLCN5 was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Green,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 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Dent disease, MIM#300009
Proteinuria_VCGS_KidGen v0.0 CD2AP Ivone Leong gene: CD2AP was added
gene: CD2AP was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CD2AP was set to Unknown
Proteinuria_VCGS_KidGen v0.0 ARHGDIA Ivone Leong gene: ARHGDIA was added
gene: ARHGDIA was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ARHGDIA was set to Unknown
Proteinuria_VCGS_KidGen v0.0 ARHGAP24 Ivone Leong gene: ARHGAP24 was added
gene: ARHGAP24 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ARHGAP24 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 APOE Ivone Leong gene: APOE was added
gene: APOE was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: APOE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOE were set to 28966924; 18077821; 24348079
Phenotypes for gene: APOE were set to Lipoprotein glomerulopathy, MIM#611771
Proteinuria_VCGS_KidGen v0.0 ANLN Ivone Leong gene: ANLN was added
gene: ANLN was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ANLN was set to Unknown
Proteinuria_VCGS_KidGen v0.0 AMN Ivone Leong gene: AMN was added
gene: AMN was added to Proteinuria_VCGS_KidGen. Sources: Expert Review Green,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
Proteinuria_VCGS_KidGen v0.0 ALMS1 Ivone Leong gene: ALMS1 was added
gene: ALMS1 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 ACTN4 Ivone Leong gene: ACTN4 was added
gene: ACTN4 was added to Proteinuria_VCGS_KidGen. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ACTN4 was set to Unknown
Proteinuria_VCGS_KidGen v0.0 Ivone Leong Added panel Proteinuria_VCGS_KidGen
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 ADCY10 Ivone Leong gene: ADCY10 was added
gene: ADCY10 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert list,Expert Review Amber
Mode of inheritance for gene: ADCY10 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 XDH Ivone Leong gene: XDH was added
gene: XDH was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: XDH was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 VDR Ivone Leong gene: VDR was added
gene: VDR was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: VDR was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 SLC9A3R1 Ivone Leong gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC9A3R1 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 SLC7A9 Ivone Leong gene: SLC7A9 was added
gene: SLC7A9 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC7A9 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 SLC4A1 Ivone Leong gene: SLC4A1 was added
gene: SLC4A1 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC4A1 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 SLC3A1 Ivone Leong gene: SLC3A1 was added
gene: SLC3A1 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC3A1 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 SLC34A3 Ivone Leong gene: SLC34A3 was added
gene: SLC34A3 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC34A3 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 SLC34A1 Ivone Leong gene: SLC34A1 was added
gene: SLC34A1 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC34A1 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 SLC2A9 Ivone Leong gene: SLC2A9 was added
gene: SLC2A9 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC2A9 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 SLC26A1 Ivone Leong gene: SLC26A1 was added
gene: SLC26A1 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC26A1 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 SLC22A12 Ivone Leong gene: SLC22A12 was added
gene: SLC22A12 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC22A12 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 SLC12A1 Ivone Leong gene: SLC12A1 was added
gene: SLC12A1 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC12A1 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 OCRL Ivone Leong gene: OCRL was added
gene: OCRL was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: OCRL was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 KCNJ1 Ivone Leong gene: KCNJ1 was added
gene: KCNJ1 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 HPRT1 Ivone Leong gene: HPRT1 was added
gene: HPRT1 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 HOGA1 Ivone Leong gene: HOGA1 was added
gene: HOGA1 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HOGA1 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 HNF4A Ivone Leong gene: HNF4A was added
gene: HNF4A was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HNF4A was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 GRHPR Ivone Leong gene: GRHPR was added
gene: GRHPR was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GRHPR was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 FAM20A Ivone Leong gene: FAM20A was added
gene: FAM20A was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: FAM20A was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 CYP24A1 Ivone Leong gene: CYP24A1 was added
gene: CYP24A1 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CYP24A1 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 CLDN19 Ivone Leong gene: CLDN19 was added
gene: CLDN19 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CLDN19 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 CLDN16 Ivone Leong gene: CLDN16 was added
gene: CLDN16 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CLDN16 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 CLCN5 Ivone Leong gene: CLCN5 was added
gene: CLCN5 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 CASR Ivone Leong gene: CASR was added
gene: CASR was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CASR was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 CA2 Ivone Leong gene: CA2 was added
gene: CA2 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CA2 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 ATP6V1B1 Ivone Leong gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ATP6V1B1 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 ATP6V0A4 Ivone Leong gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 APRT Ivone Leong gene: APRT was added
gene: APRT was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: APRT was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 AGXT Ivone Leong gene: AGXT was added
gene: AGXT was added to Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: AGXT was set to Unknown
Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS v0.0 Ivone Leong Added panel Nephrolithiasis and Nephrocalcinosis_KidGen_VCGS
Metabolic renal disease_KidGen v0.1 Ivone Leong Panel status changed from internal to public
Metabolic renal disease_KidGen v0.0 XDH Ivone Leong gene: XDH was added
gene: XDH was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: XDH was set to Unknown
Metabolic renal disease_KidGen v0.0 SLC7A7 Ivone Leong gene: SLC7A7 was added
gene: SLC7A7 was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to Unknown
Metabolic renal disease_KidGen v0.0 SLC26A1 Ivone Leong gene: SLC26A1 was added
gene: SLC26A1 was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC26A1 was set to Unknown
Metabolic renal disease_KidGen v0.0 SARS2 Ivone Leong gene: SARS2 was added
gene: SARS2 was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: SARS2 was set to Unknown
Metabolic renal disease_KidGen v0.0 RRM2B Ivone Leong gene: RRM2B was added
gene: RRM2B was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: RRM2B was set to Unknown
Metabolic renal disease_KidGen v0.0 RMND1 Ivone Leong gene: RMND1 was added
gene: RMND1 was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: RMND1 was set to Unknown
Metabolic renal disease_KidGen v0.0 NR3C1 Ivone Leong gene: NR3C1 was added
gene: NR3C1 was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: NR3C1 was set to Unknown
Metabolic renal disease_KidGen v0.0 MUT Ivone Leong gene: MUT was added
gene: MUT was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: MUT was set to Unknown
Metabolic renal disease_KidGen v0.0 LCAT Ivone Leong gene: LCAT was added
gene: LCAT was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: LCAT was set to Unknown
Metabolic renal disease_KidGen v0.0 HSD17B4 Ivone Leong gene: HSD17B4 was added
gene: HSD17B4 was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to Unknown
Metabolic renal disease_KidGen v0.0 HPRT1 Ivone Leong gene: HPRT1 was added
gene: HPRT1 was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to Unknown
Metabolic renal disease_KidGen v0.0 HOGA1 Ivone Leong gene: HOGA1 was added
gene: HOGA1 was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: HOGA1 was set to Unknown
Metabolic renal disease_KidGen v0.0 GRHPR Ivone Leong gene: GRHPR was added
gene: GRHPR was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: GRHPR was set to Unknown
Metabolic renal disease_KidGen v0.0 GLA Ivone Leong gene: GLA was added
gene: GLA was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: GLA was set to Unknown
Metabolic renal disease_KidGen v0.0 FAH Ivone Leong gene: FAH was added
gene: FAH was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: FAH was set to Unknown
Metabolic renal disease_KidGen v0.0 CYP21A2 Ivone Leong gene: CYP21A2 was added
gene: CYP21A2 was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP21A2 was set to Unknown
Metabolic renal disease_KidGen v0.0 CYP17A1 Ivone Leong gene: CYP17A1 was added
gene: CYP17A1 was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to Unknown
Metabolic renal disease_KidGen v0.0 CYP11B1 Ivone Leong gene: CYP11B1 was added
gene: CYP11B1 was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP11B1 was set to Unknown
Metabolic renal disease_KidGen v0.0 CTNS Ivone Leong gene: CTNS was added
gene: CTNS was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: CTNS was set to Unknown
Metabolic renal disease_KidGen v0.0 CPT2 Ivone Leong gene: CPT2 was added
gene: CPT2 was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: CPT2 was set to Unknown
Metabolic renal disease_KidGen v0.0 BCS1L Ivone Leong gene: BCS1L was added
gene: BCS1L was added to Metabolic renal disease_KidGen. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: BCS1L was set to Unknown
Metabolic renal disease_KidGen v0.0 APRT Ivone Leong gene: APRT was added
gene: APRT was added to Metabolic renal disease_KidGen. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APRT were set to PubMed: 3680503; 1353080; 2227934; 7915931
Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency, MIM#614723
Metabolic renal disease_KidGen v0.0 AGXT Ivone Leong gene: AGXT was added
gene: AGXT was added to Metabolic renal disease_KidGen. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGXT were set to 19479957; 10453743; PubMed: 1703535
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, MIM#259900
Metabolic renal disease_KidGen v0.0 Ivone Leong Added panel Metabolic renal disease_KidGen
Kidneyome_SuperPanel_KidGen_VCGS v0.2 Ivone Leong Panel status changed from public to internal
Kidneyome_SuperPanel_KidGen_VCGS v0.1 Ivone Leong Panel status changed from internal to public
Kidneyome_SuperPanel_KidGen_VCGS v0.0 UPK3A Ivone Leong gene: UPK3A was added
gene: UPK3A was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: UPK3A was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 UMOD Ivone Leong Source Expert Review Red was added to UMOD.
Source Victorian Clinical Genetics Services was added to UMOD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TTC21B Ivone Leong Source Expert Review Red was added to TTC21B.
Source Victorian Clinical Genetics Services was added to TTC21B.
Mode of inheritance for gene TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Nephronophthisis 12, MIM#613820 for gene: TTC21B
Rating Changed from Green List (high evidence) to Red List (low evidence)
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SEMA3A Ivone Leong gene: SEMA3A was added
gene: SEMA3A was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEMA3A was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SEC63 Ivone Leong gene: SEC63 was added
gene: SEC63 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC63 were set to 15133510
Phenotypes for gene: SEC63 were set to Polycystic liver disease 2, MIM#617004
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NUP37 Ivone Leong gene: NUP37 was added
gene: NUP37 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NUP205 Ivone Leong gene: NUP205 was added
gene: NUP205 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NUP160 Ivone Leong gene: NUP160 was added
gene: NUP160 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NPHP3 Ivone Leong Source Expert Review Red was added to NPHP3.
Source Victorian Clinical Genetics Services was added to NPHP3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Kidneyome_SuperPanel_KidGen_VCGS v0.0 LMNA Ivone Leong gene: LMNA was added
gene: LMNA was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNA were set to 24080738
Phenotypes for gene: LMNA were set to FSGS; Familial partial lipodystrophy
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ITGB4 Ivone Leong gene: ITGB4 was added
gene: ITGB4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGB4 were set to 10873890
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HOXB6 Ivone Leong gene: HOXB6 was added
gene: HOXB6 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXB6 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HOXA4 Ivone Leong gene: HOXA4 was added
gene: HOXA4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXA4 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FOXC1 Ivone Leong Source Expert Review Red was added to FOXC1.
Source Victorian Clinical Genetics Services was added to FOXC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FGFR1 Ivone Leong gene: FGFR1 was added
gene: FGFR1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 EZH2 Ivone Leong gene: EZH2 was added
gene: EZH2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: EZH2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 COQ8A Ivone Leong gene: COQ8A was added
gene: COQ8A was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ8A was set to Unknown
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, MIM#612016
Kidneyome_SuperPanel_KidGen_VCGS v0.0 COL4A2 Ivone Leong gene: COL4A2 was added
gene: COL4A2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL4A2 were set to Brain small vessel disease 2, MIM#614483
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CDX2 Ivone Leong gene: CDX2 was added
gene: CDX2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDX2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CD151 Ivone Leong Source Expert Review Red was added to CD151.
Added phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 for gene: CD151
Rating Changed from Green List (high evidence) to Red List (low evidence)
Kidneyome_SuperPanel_KidGen_VCGS v0.0 XPO5 Ivone Leong gene: XPO5 was added
gene: XPO5 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 VTN Ivone Leong gene: VTN was added
gene: VTN was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: VTN was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SOX11 Ivone Leong gene: SOX11 was added
gene: SOX11 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KANK4 Ivone Leong gene: KANK4 was added
gene: KANK4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: KANK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK4 were set to 25961457
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KANK1 Ivone Leong gene: KANK1 was added
gene: KANK1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FGF20 Ivone Leong gene: FGF20 was added
gene: FGF20 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 DACT1 Ivone Leong gene: DACT1 was added
gene: DACT1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DACT1 were set to 28054444
Phenotypes for gene: DACT1 were set to Townes-Brocks syndrome 2, MIM#617466
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CDC5L Ivone Leong gene: CDC5L was added
gene: CDC5L was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BMP7 Ivone Leong gene: BMP7 was added
gene: BMP7 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 APOL1 Ivone Leong gene: APOL1 was added
gene: APOL1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: APOL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOL1 were set to 20635188; 20647424; 24206458
Phenotypes for gene: APOL1 were set to {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ADCY10 Ivone Leong Source Victorian Clinical Genetics Services was added to ADCY10.
Mode of inheritance for gene ADCY10 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ADCY10 Ivone Leong gene: ADCY10 was added
gene: ADCY10 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ADCY10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY10 were set to 11932268
Phenotypes for gene: ADCY10 were set to Hypercalciuria, absorptive, susceptibility to, MIM#143870
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ZNF423 Ivone Leong gene: ZNF423 was added
gene: ZNF423 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: ZNF423 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ZIC3 Ivone Leong gene: ZIC3 was added
gene: ZIC3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked, MIM#314390
Kidneyome_SuperPanel_KidGen_VCGS v0.0 XPNPEP3 Ivone Leong gene: XPNPEP3 was added
gene: XPNPEP3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: XPNPEP3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 XDH Ivone Leong Source Victorian Clinical Genetics Services was added to XDH.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 XDH Ivone Leong gene: XDH was added
gene: XDH was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: XDH was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 WT1 Ivone Leong gene: WT1 was added
gene: WT1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WT1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 WNT5A Ivone Leong gene: WNT5A was added
gene: WNT5A was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1, MIM#180700
Kidneyome_SuperPanel_KidGen_VCGS v0.0 WNT4 Ivone Leong gene: WNT4 was added
gene: WNT4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT4 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 WNK4 Ivone Leong gene: WNK4 was added
gene: WNK4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: WNK4 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 WNK1 Ivone Leong gene: WNK1 was added
gene: WNK1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: WNK1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 WDR73 Ivone Leong gene: WDR73 was added
gene: WDR73 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR73 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 WDR60 Ivone Leong gene: WDR60 was added
gene: WDR60 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: WDR60 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 WDR35 Ivone Leong gene: WDR35 was added
gene: WDR35 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: WDR35 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 WDR34 Ivone Leong gene: WDR34 was added
gene: WDR34 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: WDR34 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 WDR19 Ivone Leong gene: WDR19 was added
gene: WDR19 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: WDR19 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 WDPCP Ivone Leong gene: WDPCP was added
gene: WDPCP was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: WDPCP was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 VPS33B Ivone Leong gene: VPS33B was added
gene: VPS33B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: VPS33B was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 VIPAS39 Ivone Leong gene: VIPAS39 was added
gene: VIPAS39 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: VIPAS39 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 VDR Ivone Leong Source KidGen_CalcPhos v38.1.0 was added to VDR.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 VDR Ivone Leong gene: VDR was added
gene: VDR was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VDR was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 UMOD Ivone Leong Source KidGen_Cystic v38.1.0 was added to UMOD.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 UMOD Ivone Leong gene: UMOD was added
gene: UMOD was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green
Mode of inheritance for gene: UMOD was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TXNDC15 Ivone Leong gene: TXNDC15 was added
gene: TXNDC15 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TXNDC15 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TTC8 Ivone Leong gene: TTC8 was added
gene: TTC8 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TTC8 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TTC21B Ivone Leong gene: TTC21B was added
gene: TTC21B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TTC21B was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TSC2 Ivone Leong gene: TSC2 was added
gene: TSC2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: TSC2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TSC1 Ivone Leong gene: TSC1 was added
gene: TSC1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: TSC1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TRPM6 Ivone Leong gene: TRPM6 was added
gene: TRPM6 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Magnesium v38.1.0
Mode of inheritance for gene: TRPM6 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TRPC6 Ivone Leong gene: TRPC6 was added
gene: TRPC6 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPC6 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TRIM32 Ivone Leong gene: TRIM32 was added
gene: TRIM32 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TRIM32 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TRAP1 Ivone Leong gene: TRAP1 was added
gene: TRAP1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRAP1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TRAF3IP1 Ivone Leong gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TRAF3IP1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TPRKB Ivone Leong gene: TPRKB was added
gene: TPRKB was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPRKB was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TP53RK Ivone Leong gene: TP53RK was added
gene: TP53RK was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TP53RK was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TNXB Ivone Leong gene: TNXB was added
gene: TNXB was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNXB was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TMEM67 Ivone Leong gene: TMEM67 was added
gene: TMEM67 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TMEM67 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TMEM237 Ivone Leong gene: TMEM237 was added
gene: TMEM237 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TMEM237 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TMEM231 Ivone Leong gene: TMEM231 was added
gene: TMEM231 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TMEM231 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TMEM216 Ivone Leong gene: TMEM216 was added
gene: TMEM216 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TMEM216 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TMEM138 Ivone Leong gene: TMEM138 was added
gene: TMEM138 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TMEM138 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TMEM107 Ivone Leong gene: TMEM107 was added
gene: TMEM107 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TMEM107 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 THBD Ivone Leong gene: THBD was added
gene: THBD was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: THBD was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TFAP2A Ivone Leong gene: TFAP2A was added
gene: TFAP2A was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TFAP2A was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TCTN3 Ivone Leong gene: TCTN3 was added
gene: TCTN3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TCTN3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TCTN2 Ivone Leong gene: TCTN2 was added
gene: TCTN2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TCTN2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TCTN1 Ivone Leong gene: TCTN1 was added
gene: TCTN1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: TCTN1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TBX18 Ivone Leong gene: TBX18 was added
gene: TBX18 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX18 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TBC1D8B Ivone Leong gene: TBC1D8B was added
gene: TBC1D8B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D8B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TBC1D8B were set to 30661770
Phenotypes for gene: TBC1D8B were set to Nephrotic syndrome, type 20, MIM# 301028
Kidneyome_SuperPanel_KidGen_VCGS v0.0 TBC1D1 Ivone Leong gene: TBC1D1 was added
gene: TBC1D1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBC1D1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 STX16 Ivone Leong gene: STX16 was added
gene: STX16 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: STX16 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 STRA6 Ivone Leong gene: STRA6 was added
gene: STRA6 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, MIM#601186
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SRGAP1 Ivone Leong gene: SRGAP1 was added
gene: SRGAP1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SRGAP1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SOX17 Ivone Leong gene: SOX17 was added
gene: SOX17 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOX17 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SMARCAL1 Ivone Leong gene: SMARCAL1 was added
gene: SMARCAL1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCAL1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLIT2 Ivone Leong gene: SLIT2 was added
gene: SLIT2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLIT2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC9A3R1 Ivone Leong Source Victorian Clinical Genetics Services was added to SLC9A3R1.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC9A3R1 Ivone Leong gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: SLC9A3R1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC7A9 Ivone Leong Source Victorian Clinical Genetics Services was added to SLC7A9.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC7A9 Ivone Leong gene: SLC7A9 was added
gene: SLC7A9 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC7A9 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC7A7 Ivone Leong gene: SLC7A7 was added
gene: SLC7A7 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: SLC7A7 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC4A4 Ivone Leong gene: SLC4A4 was added
gene: SLC4A4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC4A4 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC4A1 Ivone Leong Source KidGen_Tubulopathies v38.1.0 was added to SLC4A1.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC4A1 Ivone Leong gene: SLC4A1 was added
gene: SLC4A1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC4A1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC41A1 Ivone Leong gene: SLC41A1 was added
gene: SLC41A1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC41A1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC3A1 Ivone Leong Source Victorian Clinical Genetics Services was added to SLC3A1.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC3A1 Ivone Leong gene: SLC3A1 was added
gene: SLC3A1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC3A1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC34A3 Ivone Leong Source Victorian Clinical Genetics Services was added to SLC34A3.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC34A3 Ivone Leong gene: SLC34A3 was added
gene: SLC34A3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: SLC34A3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC34A1 Ivone Leong Source KidGen_CalcPhos v38.1.0 was added to SLC34A1.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC34A1 Ivone Leong Source Victorian Clinical Genetics Services was added to SLC34A1.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC34A1 Ivone Leong gene: SLC34A1 was added
gene: SLC34A1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC34A1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC2A9 Ivone Leong Source Victorian Clinical Genetics Services was added to SLC2A9.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC2A9 Ivone Leong gene: SLC2A9 was added
gene: SLC2A9 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC2A9 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC2A2 Ivone Leong gene: SLC2A2 was added
gene: SLC2A2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC2A2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC26A1 Ivone Leong Source Victorian Clinical Genetics Services was added to SLC26A1.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC26A1 Ivone Leong gene: SLC26A1 was added
gene: SLC26A1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: SLC26A1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC22A12 Ivone Leong Source Victorian Clinical Genetics Services was added to SLC22A12.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC22A12 Ivone Leong gene: SLC22A12 was added
gene: SLC22A12 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: SLC22A12 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC12A3 Ivone Leong Source KidGen_Magnesium v38.1.0 was added to SLC12A3.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC12A3 Ivone Leong Source KidGen_Tubulopathies v38.1.0 was added to SLC12A3.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC12A3 Ivone Leong gene: SLC12A3 was added
gene: SLC12A3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC12A3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC12A1 Ivone Leong Source KidGen_Tubulopathies v38.1.0 was added to SLC12A1.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SLC12A1 Ivone Leong gene: SLC12A1 was added
gene: SLC12A1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC12A1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SIX5 Ivone Leong gene: SIX5 was added
gene: SIX5 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX5 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SIX2 Ivone Leong gene: SIX2 was added
gene: SIX2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SIX1 Ivone Leong gene: SIX1 was added
gene: SIX1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SIX1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SGPL1 Ivone Leong gene: SGPL1 was added
gene: SGPL1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SGPL1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SEC61A1 Ivone Leong gene: SEC61A1 was added
gene: SEC61A1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green
Mode of inheritance for gene: SEC61A1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SDCCAG8 Ivone Leong gene: SDCCAG8 was added
gene: SDCCAG8 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: SDCCAG8 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SCNN1G Ivone Leong gene: SCNN1G was added
gene: SCNN1G was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: SCNN1G was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SCNN1B Ivone Leong gene: SCNN1B was added
gene: SCNN1B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: SCNN1B was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SCNN1A Ivone Leong gene: SCNN1A was added
gene: SCNN1A was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: SCNN1A was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SCLT1 Ivone Leong gene: SCLT1 was added
gene: SCLT1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 30425282; 28486600; 28005958; 24285566; 30237576
Phenotypes for gene: SCLT1 were set to Senior-Loken syndrome; Orofaciodigital syndrome type IX
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SCARB2 Ivone Leong gene: SCARB2 was added
gene: SCARB2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCARB2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SBDS Ivone Leong gene: SBDS was added
gene: SBDS was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: SBDS was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SARS2 Ivone Leong Source KidGen_Magnesium v38.1.0 was added to SARS2.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SARS2 Ivone Leong gene: SARS2 was added
gene: SARS2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: SARS2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SALL4 Ivone Leong gene: SALL4 was added
gene: SALL4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SALL4 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 SALL1 Ivone Leong gene: SALL1 was added
gene: SALL1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SALL1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 RRM2B Ivone Leong gene: RRM2B was added
gene: RRM2B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: RRM2B was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 RPGRIP1L Ivone Leong gene: RPGRIP1L was added
gene: RPGRIP1L was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ROR2 Ivone Leong gene: ROR2 was added
gene: ROR2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ROR2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ROBO2 Ivone Leong gene: ROBO2 was added
gene: ROBO2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ROBO2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 RMND1 Ivone Leong gene: RMND1 was added
gene: RMND1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: RMND1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 RET Ivone Leong gene: RET was added
gene: RET was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RET was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 REN Ivone Leong Source KidGen_Tubulointerstitial v38.1.0 was added to REN.
Mode of inheritance for gene REN was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 REN Ivone Leong gene: REN was added
gene: REN was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PTPRO Ivone Leong gene: PTPRO was added
gene: PTPRO was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTPRO was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PTH1R Ivone Leong gene: PTH1R was added
gene: PTH1R was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: PTH1R was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PRKCSH Ivone Leong gene: PRKCSH was added
gene: PRKCSH was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: PRKCSH was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 POC1B Ivone Leong gene: POC1B was added
gene: POC1B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: POC1B was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PLCE1 Ivone Leong gene: PLCE1 was added
gene: PLCE1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLCE1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PKHD1 Ivone Leong gene: PKHD1 was added
gene: PKHD1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: PKHD1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PKD2 Ivone Leong gene: PKD2 was added
gene: PKD2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: PKD2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PKD1 Ivone Leong gene: PKD1 was added
gene: PKD1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: PKD1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PHEX Ivone Leong gene: PHEX was added
gene: PHEX was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: PHEX was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PDSS2 Ivone Leong gene: PDSS2 was added
gene: PDSS2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PDSS2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PDE6D Ivone Leong gene: PDE6D was added
gene: PDE6D was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: PDE6D was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PDE3A Ivone Leong gene: PDE3A was added
gene: PDE3A was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: PDE3A was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PCBD1 Ivone Leong gene: PCBD1 was added
gene: PCBD1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Magnesium v38.1.0
Mode of inheritance for gene: PCBD1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PBX1 Ivone Leong gene: PBX1 was added
gene: PBX1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PBX1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PAX2 Ivone Leong Mode of inheritance for gene PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Glomerulosclerosis, focal segmental, 7, MIM#616002 for gene: PAX2
Publications for gene PAX2 were changed from to 24676634
Kidneyome_SuperPanel_KidGen_VCGS v0.0 PAX2 Ivone Leong gene: PAX2 was added
gene: PAX2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PAX2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 OSGEP Ivone Leong gene: OSGEP was added
gene: OSGEP was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OSGEP was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 OFD1 Ivone Leong gene: OFD1 was added
gene: OFD1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: OFD1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 OCRL Ivone Leong Source KidGen_Tubulopathies v38.1.0 was added to OCRL.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 OCRL Ivone Leong Source Victorian Clinical Genetics Services was added to OCRL.
Mode of inheritance for gene OCRL was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 OCRL Ivone Leong gene: OCRL was added
gene: OCRL was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NUP93 Ivone Leong gene: NUP93 was added
gene: NUP93 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NUP85 Ivone Leong gene: NUP85 was added
gene: NUP85 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NUP133 Ivone Leong gene: NUP133 was added
gene: NUP133 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NUP107 Ivone Leong gene: NUP107 was added
gene: NUP107 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NUP107 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NR3C2 Ivone Leong gene: NR3C2 was added
gene: NR3C2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: NR3C2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NR3C1 Ivone Leong gene: NR3C1 was added
gene: NR3C1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: NR3C1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NPHS2 Ivone Leong gene: NPHS2 was added
gene: NPHS2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHS2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NPHS1 Ivone Leong gene: NPHS1 was added
gene: NPHS1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NPHS1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NPHP4 Ivone Leong gene: NPHP4 was added
gene: NPHP4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: NPHP4 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NPHP3 Ivone Leong gene: NPHP3 was added
gene: NPHP3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: NPHP3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NPHP1 Ivone Leong gene: NPHP1 was added
gene: NPHP1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: NPHP1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NOTCH2 Ivone Leong gene: NOTCH2 was added
gene: NOTCH2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NOTCH2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NLRP3 Ivone Leong gene: NLRP3 was added
gene: NLRP3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLRP3 were set to 31057541; 28229991; PubMed: 11687797; 27435956
Phenotypes for gene: NLRP3 were set to Muckle-Wells syndrome, MIM#191900
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NIPBL Ivone Leong gene: NIPBL was added
gene: NIPBL was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NIPBL was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NEK8 Ivone Leong gene: NEK8 was added
gene: NEK8 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: NEK8 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 NEK1 Ivone Leong gene: NEK1 was added
gene: NEK1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: NEK1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 MYOCD Ivone Leong gene: MYOCD was added
gene: MYOCD was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYOCD were set to 31513549
Phenotypes for gene: MYOCD were set to congenital heart disease; Megabladder; cardiomyopathy
Kidneyome_SuperPanel_KidGen_VCGS v0.0 MYO1E Ivone Leong gene: MYO1E was added
gene: MYO1E was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYO1E was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 MYH9 Ivone Leong gene: MYH9 was added
gene: MYH9 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYH9 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 MUT Ivone Leong gene: MUT was added
gene: MUT was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: MUT was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 MUC1 Ivone Leong Source KidGen_Tubulointerstitial v38.1.0 was added to MUC1.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 MUC1 Ivone Leong gene: MUC1 was added
gene: MUC1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: MUC1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 MMACHC Ivone Leong gene: MMACHC was added
gene: MMACHC was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Kidneyome_SuperPanel_KidGen_VCGS v0.0 MKS1 Ivone Leong gene: MKS1 was added
gene: MKS1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: MKS1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 MKKS Ivone Leong gene: MKKS was added
gene: MKKS was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: MKKS was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 MAPKBP1 Ivone Leong gene: MAPKBP1 was added
gene: MAPKBP1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: MAPKBP1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 MAGI2 Ivone Leong gene: MAGI2 was added
gene: MAGI2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MAGI2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 MAGED2 Ivone Leong Source Victorian Clinical Genetics Services was added to MAGED2.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 MAGED2 Ivone Leong gene: MAGED2 was added
gene: MAGED2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: MAGED2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 LZTFL1 Ivone Leong gene: LZTFL1 was added
gene: LZTFL1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: LZTFL1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 LYZ Ivone Leong gene: LYZ was added
gene: LYZ was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LYZ were set to 15745733,; 8464497; PubMed: 1808634
Phenotypes for gene: LYZ were set to Amyloidosis, renal, MIM#105200
Kidneyome_SuperPanel_KidGen_VCGS v0.0 LRP4 Ivone Leong gene: LRP4 was added
gene: LRP4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRP4 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 LRIG2 Ivone Leong gene: LRIG2 was added
gene: LRIG2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRIG2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 LMX1B Ivone Leong gene: LMX1B was added
gene: LMX1B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMX1B was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 LIFR Ivone Leong gene: LIFR was added
gene: LIFR was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LIFR were set to 28334964
Kidneyome_SuperPanel_KidGen_VCGS v0.0 LCAT Ivone Leong gene: LCAT was added
gene: LCAT was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: LCAT was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 LAMB2 Ivone Leong gene: LAMB2 was added
gene: LAMB2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMB2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 LAMA5 Ivone Leong gene: LAMA5 was added
gene: LAMA5 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA5 were set to 29534211
Phenotypes for gene: LAMA5 were set to Nephrotic syndrome
Kidneyome_SuperPanel_KidGen_VCGS v0.0 LAGE3 Ivone Leong gene: LAGE3 was added
gene: LAGE3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAGE3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KYNU Ivone Leong gene: KYNU was added
gene: KYNU was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 28792876
Phenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KMT2D Ivone Leong gene: KMT2D was added
gene: KMT2D was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2D was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KLHL3 Ivone Leong gene: KLHL3 was added
gene: KLHL3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: KLHL3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KL Ivone Leong gene: KL was added
gene: KL was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: KL was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KIF7 Ivone Leong gene: KIF7 was added
gene: KIF7 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: KIF7 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KIF14 Ivone Leong gene: KIF14 was added
gene: KIF14 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: KIF14 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KIAA0753 Ivone Leong gene: KIAA0753 was added
gene: KIAA0753 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: KIAA0753 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KIAA0586 Ivone Leong gene: KIAA0586 was added
gene: KIAA0586 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: KIAA0586 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KIAA0556 Ivone Leong gene: KIAA0556 was added
gene: KIAA0556 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: KIAA0556 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KDM6A Ivone Leong gene: KDM6A was added
gene: KDM6A was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KDM6A was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KCNJ5 Ivone Leong gene: KCNJ5 was added
gene: KCNJ5 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: KCNJ5 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KCNJ10 Ivone Leong Source KidGen_Magnesium v38.1.0 was added to KCNJ10.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KCNJ10 Ivone Leong gene: KCNJ10 was added
gene: KCNJ10 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: KCNJ10 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KCNJ1 Ivone Leong Source KidGen_Tubulopathies v38.1.0 was added to KCNJ1.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KCNJ1 Ivone Leong gene: KCNJ1 was added
gene: KCNJ1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNJ1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KCNA1 Ivone Leong gene: KCNA1 was added
gene: KCNA1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Magnesium v38.1.0
Mode of inheritance for gene: KCNA1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 KANK2 Ivone Leong gene: KANK2 was added
gene: KANK2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 JAG1 Ivone Leong gene: JAG1 was added
gene: JAG1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: JAG1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ITGA8 Ivone Leong gene: ITGA8 was added
gene: ITGA8 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGA8 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ITGA3 Ivone Leong gene: ITGA3 was added
gene: ITGA3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ITGA3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 IQCB1 Ivone Leong gene: IQCB1 was added
gene: IQCB1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: IQCB1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 INVS Ivone Leong gene: INVS was added
gene: INVS was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: INVS was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 INPP5E Ivone Leong gene: INPP5E was added
gene: INPP5E was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: INPP5E was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 INF2 Ivone Leong gene: INF2 was added
gene: INF2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INF2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 IFT81 Ivone Leong gene: IFT81 was added
gene: IFT81 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: IFT81 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 IFT74 Ivone Leong gene: IFT74 was added
gene: IFT74 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: IFT74 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 IFT57 Ivone Leong gene: IFT57 was added
gene: IFT57 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: IFT57 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 IFT43 Ivone Leong gene: IFT43 was added
gene: IFT43 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: IFT43 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 IFT27 Ivone Leong gene: IFT27 was added
gene: IFT27 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: IFT27 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 IFT172 Ivone Leong gene: IFT172 was added
gene: IFT172 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: IFT172 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 IFT140 Ivone Leong gene: IFT140 was added
gene: IFT140 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: IFT140 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 IFT122 Ivone Leong gene: IFT122 was added
gene: IFT122 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: IFT122 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HYLS1 Ivone Leong gene: HYLS1 was added
gene: HYLS1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: HYLS1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HSD17B4 Ivone Leong gene: HSD17B4 was added
gene: HSD17B4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: HSD17B4 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HSD11B2 Ivone Leong gene: HSD11B2 was added
gene: HSD11B2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: HSD11B2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HPSE2 Ivone Leong gene: HPSE2 was added
gene: HPSE2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPSE2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HPRT1 Ivone Leong Source Victorian Clinical Genetics Services was added to HPRT1.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HPRT1 Ivone Leong gene: HPRT1 was added
gene: HPRT1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: HPRT1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HOXA13 Ivone Leong gene: HOXA13 was added
gene: HOXA13 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXA13 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HOGA1 Ivone Leong Source Victorian Clinical Genetics Services was added to HOGA1.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HOGA1 Ivone Leong gene: HOGA1 was added
gene: HOGA1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: HOGA1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HNF4A Ivone Leong Source Victorian Clinical Genetics Services was added to HNF4A.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HNF4A Ivone Leong gene: HNF4A was added
gene: HNF4A was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: HNF4A was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HNF1B Ivone Leong Source Expert list was added to HNF1B.
Mode of inheritance for gene HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Renal cysts and diabetes syndrome, MIM#137920 for gene: HNF1B
Publications for gene HNF1B were changed from to 27234911
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HNF1B Ivone Leong Source KidGen_Cystic v38.1.0 was added to HNF1B.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HNF1B Ivone Leong Source Victorian Clinical Genetics Services was added to HNF1B.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HNF1B Ivone Leong gene: HNF1B was added
gene: HNF1B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green
Mode of inheritance for gene: HNF1B was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 HAAO Ivone Leong gene: HAAO was added
gene: HAAO was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GSN Ivone Leong gene: GSN was added
gene: GSN was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GSN were set to PubMed: 8395367; 29167514; 6975851; 8684801; 2176164
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type, MIM#105200
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GRIP1 Ivone Leong gene: GRIP1 was added
gene: GRIP1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GRIP1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GRHPR Ivone Leong Source Victorian Clinical Genetics Services was added to GRHPR.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GRHPR Ivone Leong gene: GRHPR was added
gene: GRHPR was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: GRHPR was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GREB1L Ivone Leong gene: GREB1L was added
gene: GREB1L was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GREB1L was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GPC3 Ivone Leong gene: GPC3 was added
gene: GPC3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPC3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GNA11 Ivone Leong Source Victorian Clinical Genetics Services was added to GNA11.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GNA11 Ivone Leong gene: GNA11 was added
gene: GNA11 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: GNA11 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GLIS2 Ivone Leong gene: GLIS2 was added
gene: GLIS2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: GLIS2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GLI3 Ivone Leong gene: GLI3 was added
gene: GLI3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GLA Ivone Leong gene: GLA was added
gene: GLA was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: GLA was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GATM Ivone Leong gene: GATM was added
gene: GATM was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: GATM was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GATA3 Ivone Leong gene: GATA3 was added
gene: GATA3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GATA3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GANAB Ivone Leong gene: GANAB was added
gene: GANAB was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_Cystic v38.1.0,Expert Review Green
Mode of inheritance for gene: GANAB was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 GALNT3 Ivone Leong gene: GALNT3 was added
gene: GALNT3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: GALNT3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FXYD2 Ivone Leong gene: FXYD2 was added
gene: FXYD2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Magnesium v38.1.0
Mode of inheritance for gene: FXYD2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FREM2 Ivone Leong gene: FREM2 was added
gene: FREM2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FREM2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FREM1 Ivone Leong gene: FREM1 was added
gene: FREM1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FREM1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FRAS1 Ivone Leong gene: FRAS1 was added
gene: FRAS1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FRAS1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FOXC2 Ivone Leong gene: FOXC2 was added
gene: FOXC2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXC2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FOXC1 Ivone Leong gene: FOXC1 was added
gene: FOXC1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: FOXC1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FN1 Ivone Leong gene: FN1 was added
gene: FN1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FN1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FGFR3 Ivone Leong gene: FGFR3 was added
gene: FGFR3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR3 were set to LADD syndrome, MIM#149730
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FGFR2 Ivone Leong gene: FGFR2 was added
gene: FGFR2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FGF8 Ivone Leong gene: FGF8 was added
gene: FGF8 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF8 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FGF23 Ivone Leong gene: FGF23 was added
gene: FGF23 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: FGF23 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FGF10 Ivone Leong gene: FGF10 was added
gene: FGF10 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGF10 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FGA Ivone Leong gene: FGA was added
gene: FGA was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGA were set to 12050338; 8639778; PubMed: 8097946
Phenotypes for gene: FGA were set to Amyloidosis, familial visceral, MIM#105200
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FAT1 Ivone Leong gene: FAT1 was added
gene: FAT1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAT1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FAN1 Ivone Leong gene: FAN1 was added
gene: FAN1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAN1 were set to PubMed: 22772369; 16678356; 7847351; 8546134
Phenotypes for gene: FAN1 were set to Interstitial nephritis, karyomegalic
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FAM58A Ivone Leong gene: FAM58A was added
gene: FAM58A was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAM58A was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FAM20A Ivone Leong Source Victorian Clinical Genetics Services was added to FAM20A.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FAM20A Ivone Leong gene: FAM20A was added
gene: FAM20A was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: FAM20A was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FAM111A Ivone Leong Source KidGen_Magnesium v38.1.0 was added to FAM111A.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FAM111A Ivone Leong gene: FAM111A was added
gene: FAM111A was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: FAM111A was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 FAH Ivone Leong gene: FAH was added
gene: FAH was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: FAH was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 EYA1 Ivone Leong gene: EYA1 was added
gene: EYA1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EYA1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 EXOC3L2 Ivone Leong gene: EXOC3L2 was added
gene: EXOC3L2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Literature
Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC3L2 were set to 28749478; 27894351; 30327448
Phenotypes for gene: EXOC3L2 were set to bone marrow failure; Dandy-Walker malformation; renal dysplasia
Kidneyome_SuperPanel_KidGen_VCGS v0.0 EVC2 Ivone Leong gene: EVC2 was added
gene: EVC2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: EVC2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 EVC Ivone Leong gene: EVC was added
gene: EVC was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: EVC was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ENPP1 Ivone Leong gene: ENPP1 was added
gene: ENPP1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: ENPP1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 EMP2 Ivone Leong gene: EMP2 was added
gene: EMP2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EMP2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 EHHADH Ivone Leong gene: EHHADH was added
gene: EHHADH was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: EHHADH was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 EGFR Ivone Leong gene: EGFR was added
gene: EGFR was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Magnesium v38.1.0
Mode of inheritance for gene: EGFR was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 EGF Ivone Leong gene: EGF was added
gene: EGF was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Magnesium v38.1.0
Mode of inheritance for gene: EGF was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 DZIP1L Ivone Leong gene: DZIP1L was added
gene: DZIP1L was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DZIP1L were set to 28530676
Phenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, MIM#617610
Kidneyome_SuperPanel_KidGen_VCGS v0.0 DYNC2H1 Ivone Leong gene: DYNC2H1 was added
gene: DYNC2H1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: DYNC2H1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 DSTYK Ivone Leong gene: DSTYK was added
gene: DSTYK was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSTYK was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 DNAJB11 Ivone Leong Added phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 for gene: DNAJB11
Kidneyome_SuperPanel_KidGen_VCGS v0.0 DNAJB11 Ivone Leong gene: DNAJB11 was added
gene: DNAJB11 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJB11 were set to 29706351; 29777155
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
Kidneyome_SuperPanel_KidGen_VCGS v0.0 DMP1 Ivone Leong gene: DMP1 was added
gene: DMP1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: DMP1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 DHCR7 Ivone Leong gene: DHCR7 was added
gene: DHCR7 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DHCR7 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 DGKE Ivone Leong gene: DGKE was added
gene: DGKE was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DGKE was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 DDX59 Ivone Leong gene: DDX59 was added
gene: DDX59 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: DDX59 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 DCDC2 Ivone Leong gene: DCDC2 was added
gene: DCDC2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: DCDC2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CYP2R1 Ivone Leong gene: CYP2R1 was added
gene: CYP2R1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: CYP2R1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CYP27B1 Ivone Leong gene: CYP27B1 was added
gene: CYP27B1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: CYP27B1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CYP24A1 Ivone Leong Source Victorian Clinical Genetics Services was added to CYP24A1.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CYP24A1 Ivone Leong gene: CYP24A1 was added
gene: CYP24A1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: CYP24A1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CYP21A2 Ivone Leong gene: CYP21A2 was added
gene: CYP21A2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: CYP21A2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CYP17A1 Ivone Leong gene: CYP17A1 was added
gene: CYP17A1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: CYP17A1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CYP11B2 Ivone Leong gene: CYP11B2 was added
gene: CYP11B2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CYP11B1 Ivone Leong gene: CYP11B1 was added
gene: CYP11B1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: CYP11B1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CUL3 Ivone Leong gene: CUL3 was added
gene: CUL3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CUL3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CUBN Ivone Leong gene: CUBN was added
gene: CUBN was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CUBN was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CTU2 Ivone Leong gene: CTU2 was added
gene: CTU2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTU2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CTNS Ivone Leong gene: CTNS was added
gene: CTNS was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: CTNS was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CSPP1 Ivone Leong gene: CSPP1 was added
gene: CSPP1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: CSPP1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CRB2 Ivone Leong gene: CRB2 was added
gene: CRB2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRB2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CPT2 Ivone Leong gene: CPT2 was added
gene: CPT2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: CPT2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 COQ9 Ivone Leong gene: COQ9 was added
gene: COQ9 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: COQ9 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 COQ8B Ivone Leong gene: COQ8B was added
gene: COQ8B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 COQ7 Ivone Leong gene: COQ7 was added
gene: COQ7 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to 26084283; 28409910; 31240163
Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8, MIM#616733
Kidneyome_SuperPanel_KidGen_VCGS v0.0 COQ6 Ivone Leong gene: COQ6 was added
gene: COQ6 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ6 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 COQ2 Ivone Leong gene: COQ2 was added
gene: COQ2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COQ2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 COL4A5 Ivone Leong gene: COL4A5 was added
gene: COL4A5 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A5 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 COL4A4 Ivone Leong gene: COL4A4 was added
gene: COL4A4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A4 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 COL4A3 Ivone Leong gene: COL4A3 was added
gene: COL4A3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 COL4A1 Ivone Leong Source Expert list was added to COL4A1.
Mode of inheritance for gene COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773 for gene: COL4A1
Kidneyome_SuperPanel_KidGen_VCGS v0.0 COL4A1 Ivone Leong gene: COL4A1 was added
gene: COL4A1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL4A1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CNNM2 Ivone Leong gene: CNNM2 was added
gene: CNNM2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Magnesium v38.1.0
Mode of inheritance for gene: CNNM2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLDN19 Ivone Leong Source KidGen_Magnesium v38.1.0 was added to CLDN19.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLDN19 Ivone Leong gene: CLDN19 was added
gene: CLDN19 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLDN19 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLDN16 Ivone Leong Source KidGen_Magnesium v38.1.0 was added to CLDN16.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLDN16 Ivone Leong gene: CLDN16 was added
gene: CLDN16 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLDN16 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLDN10 Ivone Leong gene: CLDN10 was added
gene: CLDN10 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Magnesium v38.1.0
Mode of inheritance for gene: CLDN10 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLCNKB Ivone Leong Source KidGen_Magnesium v38.1.0 was added to CLCNKB.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLCNKB Ivone Leong Source Victorian Clinical Genetics Services was added to CLCNKB.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLCNKB Ivone Leong gene: CLCNKB was added
gene: CLCNKB was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: CLCNKB was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLCNKA Ivone Leong Source KidGen_Tubulopathies v38.1.0 was added to CLCNKA.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLCNKA Ivone Leong gene: CLCNKA was added
gene: CLCNKA was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLCNKA was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLCN5 Ivone Leong Source Expert list was added to CLCN5.
Mode of inheritance for gene CLCN5 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)
Added phenotypes Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Dent disease, MIM#300009 for gene: CLCN5
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLCN5 Ivone Leong Source KidGen_Tubulopathies v38.1.0 was added to CLCN5.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLCN5 Ivone Leong gene: CLCN5 was added
gene: CLCN5 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CLCN5 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CLCN2 Ivone Leong gene: CLCN2 was added
gene: CLCN2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CLCN2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CHD7 Ivone Leong gene: CHD7 was added
gene: CHD7 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD7 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CHD1L Ivone Leong gene: CHD1L was added
gene: CHD1L was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHD1L was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CFI Ivone Leong gene: CFI was added
gene: CFI was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFI was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CFHR5 Ivone Leong gene: CFHR5 was added
gene: CFHR5 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFHR5 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CFHR3 Ivone Leong gene: CFHR3 was added
gene: CFHR3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFHR3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CFHR1 Ivone Leong gene: CFHR1 was added
gene: CFHR1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFHR1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CFH Ivone Leong Mode of inheritance for gene CFH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CFH Ivone Leong gene: CFH was added
gene: CFH was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CFH were set to Complement factor H deficiency, MIM#609814
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CFB Ivone Leong gene: CFB was added
gene: CFB was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CFB was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CEP83 Ivone Leong gene: CEP83 was added
gene: CEP83 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: CEP83 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CEP55 Ivone Leong gene: CEP55 was added
gene: CEP55 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP55 were set to 30622327; 28295209; 28264986
Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CEP41 Ivone Leong gene: CEP41 was added
gene: CEP41 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: CEP41 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CEP290 Ivone Leong gene: CEP290 was added
gene: CEP290 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: CEP290 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CEP164 Ivone Leong gene: CEP164 was added
gene: CEP164 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: CEP164 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CEP120 Ivone Leong gene: CEP120 was added
gene: CEP120 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: CEP120 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CEP104 Ivone Leong gene: CEP104 was added
gene: CEP104 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: CEP104 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CENPF Ivone Leong gene: CENPF was added
gene: CENPF was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPF were set to Stromme syndrome, MIM#243605
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CDC73 Ivone Leong gene: CDC73 was added
gene: CDC73 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: CDC73 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CD46 Ivone Leong gene: CD46 was added
gene: CD46 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CD46 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CD2AP Ivone Leong gene: CD2AP was added
gene: CD2AP was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CD2AP was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CD151 Ivone Leong Source Expert list was added to CD151.
Mode of inheritance for gene CD151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 for gene: CD151
Publications for gene CD151 were changed from to 15265795; 29138120
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CD151 Ivone Leong gene: CD151 was added
gene: CD151 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CD151 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CCDC28B Ivone Leong gene: CCDC28B was added
gene: CCDC28B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: CCDC28B was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CC2D2A Ivone Leong gene: CC2D2A was added
gene: CC2D2A was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: CC2D2A was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CASR Ivone Leong Source Victorian Clinical Genetics Services was added to CASR.
Mode of inheritance for gene CASR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CASR Ivone Leong Source Expert list was added to CASR.
Mode of inheritance for gene CASR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198 for gene: CASR
Publications for gene CASR were changed from to 8813042; 27234911
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CASR Ivone Leong gene: CASR was added
gene: CASR was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: CASR was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CACNA1H Ivone Leong gene: CACNA1H was added
gene: CACNA1H was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CACNA1H was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CACNA1D Ivone Leong gene: CACNA1D was added
gene: CACNA1D was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CACNA1D was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CA2 Ivone Leong Source Victorian Clinical Genetics Services was added to CA2.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 CA2 Ivone Leong gene: CA2 was added
gene: CA2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: CA2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 C5orf42 Ivone Leong gene: C5orf42 was added
gene: C5orf42 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: C5orf42 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 C3 Ivone Leong gene: C3 was added
gene: C3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 C2CD3 Ivone Leong gene: C2CD3 was added
gene: C2CD3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: C2CD3 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BSND Ivone Leong Source KidGen_Tubulopathies v38.1.0 was added to BSND.
Mode of inheritance for gene BSND was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BSND Ivone Leong Source Expert list was added to BSND.
Mode of inheritance for gene BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bartter syndrome, Type 4a, MIM#602522 for gene: BSND
Publications for gene BSND were changed from to 11687798; 27234911
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BSND Ivone Leong gene: BSND was added
gene: BSND was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BSND was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BMP4 Ivone Leong gene: BMP4 was added
gene: BMP4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMP4 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BICC1 Ivone Leong gene: BICC1 was added
gene: BICC1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BICC1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BCS1L Ivone Leong gene: BCS1L was added
gene: BCS1L was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_MetabolicRenal v38.1.0
Mode of inheritance for gene: BCS1L was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BBS9 Ivone Leong gene: BBS9 was added
gene: BBS9 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: BBS9 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BBS7 Ivone Leong gene: BBS7 was added
gene: BBS7 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: BBS7 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BBS5 Ivone Leong gene: BBS5 was added
gene: BBS5 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: BBS5 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BBS4 Ivone Leong gene: BBS4 was added
gene: BBS4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: BBS4 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BBS2 Ivone Leong gene: BBS2 was added
gene: BBS2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: BBS2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BBS12 Ivone Leong gene: BBS12 was added
gene: BBS12 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: BBS12 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BBS10 Ivone Leong gene: BBS10 was added
gene: BBS10 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: BBS10 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BBS1 Ivone Leong gene: BBS1 was added
gene: BBS1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: BBS1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 BBIP1 Ivone Leong gene: BBIP1 was added
gene: BBIP1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: BBIP1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 B9D2 Ivone Leong gene: B9D2 was added
gene: B9D2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: B9D2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 B9D1 Ivone Leong gene: B9D1 was added
gene: B9D1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: B9D1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 AVPR2 Ivone Leong gene: AVPR2 was added
gene: AVPR2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: AVPR2 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ATXN10 Ivone Leong gene: ATXN10 was added
gene: ATXN10 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: ATXN10 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ATP6V1B1 Ivone Leong Source KidGen_Tubulopathies v38.1.0 was added to ATP6V1B1.
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ATP6V1B1 Ivone Leong gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATP6V1B1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ATP6V0A4 Ivone Leong Source Victorian Clinical Genetics Services was added to ATP6V0A4.
Mode of inheritance for gene ATP6V0A4 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ATP6V0A4 Ivone Leong gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V0A4 were set to 10973252; 12414817
Phenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, MIM#602722
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ARL6 Ivone Leong gene: ARL6 was added
gene: ARL6 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: ARL6 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ARL13B Ivone Leong gene: ARL13B was added
gene: ARL13B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: ARL13B was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ARHGDIA Ivone Leong gene: ARHGDIA was added
gene: ARHGDIA was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGDIA was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ARHGAP24 Ivone Leong gene: ARHGAP24 was added
gene: ARHGAP24 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARHGAP24 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 AQP2 Ivone Leong gene: AQP2 was added
gene: AQP2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AQP2 were set to 11536078; 7537761
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, MIM#125800
Kidneyome_SuperPanel_KidGen_VCGS v0.0 APRT Ivone Leong Source Expert list was added to APRT.
Mode of inheritance for gene APRT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Adenine phosphoribosyltransferase deficiency, MIM#614723 for gene: APRT
Publications for gene APRT were changed from to 2227934; PubMed: 3680503; 1353080; 7915931
Kidneyome_SuperPanel_KidGen_VCGS v0.0 APRT Ivone Leong gene: APRT was added
gene: APRT was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: APRT was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 APOE Ivone Leong gene: APOE was added
gene: APOE was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: APOE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOE were set to 18077821; 24348079; 28966924
Phenotypes for gene: APOE were set to Lipoprotein glomerulopathy, MIM#611771
Kidneyome_SuperPanel_KidGen_VCGS v0.0 APOA1 Ivone Leong gene: APOA1 was added
gene: APOA1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA1 were set to 27240838; 29968409; PubMed:31482740
Phenotypes for gene: APOA1 were set to Amyloidosis, 3 or more types, MIM#105200
Kidneyome_SuperPanel_KidGen_VCGS v0.0 AP2S1 Ivone Leong gene: AP2S1 was added
gene: AP2S1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,KidGen_CalcPhos v38.1.0
Mode of inheritance for gene: AP2S1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ANOS1 Ivone Leong gene: ANOS1 was added
gene: ANOS1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANOS1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ANLN Ivone Leong gene: ANLN was added
gene: ANLN was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANLN was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ANKS6 Ivone Leong gene: ANKS6 was added
gene: ANKS6 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green
Mode of inheritance for gene: ANKS6 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 AMN Ivone Leong gene: AMN was added
gene: AMN was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
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
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ALMS1 Ivone Leong gene: ALMS1 was added
gene: ALMS1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALMS1 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 AHI1 Ivone Leong gene: AHI1 was added
gene: AHI1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHI1 were set to PubMed: 15322546; 15467982; 16453322; 29146704
Phenotypes for gene: AHI1 were set to Joubert syndrome 3, MIM#608629
Kidneyome_SuperPanel_KidGen_VCGS v0.0 AGXT Ivone Leong Source Victorian Clinical Genetics Services was added to AGXT.
Mode of inheritance for gene AGXT was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 AGXT Ivone Leong gene: AGXT was added
gene: AGXT was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGXT were set to 19479957; 10453743; PubMed: 1703535
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, MIM#259900
Kidneyome_SuperPanel_KidGen_VCGS v0.0 AGTR1 Ivone Leong gene: AGTR1 was added
gene: AGTR1 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Kidneyome_SuperPanel_KidGen_VCGS v0.0 AGT Ivone Leong gene: AGT was added
gene: AGT was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ADAMTS13 Ivone Leong gene: ADAMTS13 was added
gene: ADAMTS13 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADAMTS13 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ACTN4 Ivone Leong gene: ACTN4 was added
gene: ACTN4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACTN4 was set to Unknown
Kidneyome_SuperPanel_KidGen_VCGS v0.0 ACE Ivone Leong gene: ACE was added
gene: ACE was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Kidneyome_SuperPanel_KidGen_VCGS v0.0 Ivone Leong Added panel Kidneyome_SuperPanel_KidGen_VCGS
Renal amyloidosis_KidGen_VCGS v0.2 Ivone Leong Panel status changed from internal to public
Renal amyloidosis_KidGen_VCGS v0.0 NLRP3 Ivone Leong gene: NLRP3 was added
gene: NLRP3 was added to Renal amyloidosis_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLRP3 were set to 31057541; 27435956; 28229991; PubMed: 11687797
Phenotypes for gene: NLRP3 were set to Muckle-Wells syndrome, MIM#191900
Renal amyloidosis_KidGen_VCGS v0.0 LYZ Ivone Leong gene: LYZ was added
gene: LYZ was added to Renal amyloidosis_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LYZ were set to PubMed: 1808634; 15745733,; 8464497
Phenotypes for gene: LYZ were set to Amyloidosis, renal, MIM#105200
Renal amyloidosis_KidGen_VCGS v0.0 GSN Ivone Leong gene: GSN was added
gene: GSN was added to Renal amyloidosis_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GSN were set to 2176164; PubMed: 8395367; 6975851; 29167514; 8684801
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type, MIM#105200
Renal amyloidosis_KidGen_VCGS v0.0 FGA Ivone Leong gene: FGA was added
gene: FGA was added to Renal amyloidosis_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FGA were set to 8639778; PubMed: 8097946; 12050338
Phenotypes for gene: FGA were set to Amyloidosis, familial visceral, MIM#105200
Renal amyloidosis_KidGen_VCGS v0.0 APOA1 Ivone Leong gene: APOA1 was added
gene: APOA1 was added to Renal amyloidosis_KidGen_VCGS. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APOA1 were set to 27240838; PubMed:31482740; 29968409
Phenotypes for gene: APOA1 were set to Amyloidosis, 3 or more types, MIM#105200
Renal amyloidosis_KidGen_VCGS v0.0 Ivone Leong Added panel Renal amyloidosis_KidGen_VCGS
Intellectual disability v3.0 UGP2 Konstantinos Varvagiannis gene: UGP2 was added
gene: UGP2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGP2 were set to 31820119
Phenotypes for gene: UGP2 were set to Seizures; Global developmental delay; Intellectual disability; Feeding difficulties; Abnormality of vision; Abnormality of the face
Penetrance for gene: UGP2 were set to Complete
Review for gene: UGP2 was set to GREEN
Added comment: Perenthaler et al. (2019 - PMID: 31820119) provide evidence that homozygosity for a variant abolishing the start codon of the UGP2 transcript (NM_001001521.1) encoding the predominant (short) protein isoform in brain, leads to a severe epileptic encephalopathy.

This variant (chr2:64083454A>G / NM_001001521.1:c.1A>G - p.?) is also predicted to result in a substitution of a methionine at position 12 by a valine of the longer UGP2 transcript (NM_006759.3:c.34A>G - p.Met12Val).

The 2 isoforms differ only by 11 amino acids at the N-terminal and are otherwise expected to be functionally equivalent.

The authors provide details on 22 individuals from 15 families (some of which consanguineous).

Features included intractable seizures (in all), absence of developmental milestones (in all), progressive microcephaly, visual impairment. The authors reported also presence of somewhat similar facial features. Some of these individuals passed away early.

Previous work-up in several of them (incl. SNP-array, gene panel testing and metabolic investigations) had not revealed any abnormality, apart from ROH in some individuals. In all cases, the homozygous UGP2 SNV was the only P/LP variant for the neurodevelopmental phenotype following exome/genome sequencing. Segregation studies in affected/unaffected family members were compatible.

Families came from the Netherlands (but mostly from) India, Pakistan and Iran. Presence of a region of homozygosity shared between individuals from different families suggested that the variant might represent a mutation that originated several generations ago (in the area of Balochistan). The variant is present 15x in gnomAD, only in heterozygous state (in Asian mostly, reported once in Ashkenazi Jewish or Europeans) [ https://gnomad.broadinstitute.org/variant/2-64083454-A-G ].

UGP2 encodes UDP-glucose pyrophosphorylase which is an essential enzyme in sugar metabolism, catalyzing conversion of glucose-1-phosphate to UDP-glucose. UDP-glucose, in turn, serves as precursor for production of glycogen by glycogen synthase.

The authors provide several lines of evidence for a the role of the gene in the CNS as well as for the deleterious effect of the specific variant :
- In patient fibroblasts total UGP2 levels were not signifficantly different compared to parent / control fibroblasts, the longer isoform being upregulated (and stable) when the shorter is missing. Immunocytochemistry demonstrated similar localization of UGP2 in the case of mutant or wt cells. Enzymatic activity (/capacity to produce UDP-glucose) was similar between homozygous mut, heterozygous and wt fibroblasts.
- In H9-derived neural stem cells, Western Blot, RT-PCR and qRT-PCR suggested that the short isoform is the predominant one. (In embryonic stem cells, or fibroblasts the ratio between short and long isoform was lower).
- Analysis of RNA-seq data from human fetal tissues suggested that the short isoform is the predominant in brain.
- UGP2 was detected upon immunohistochemistry in fetal brain tissues from first to third trimester of pregnancy while Western Blot confirmed preferential expression of the shorter isoform.
- Homozygous embryonic (ESC) or neural stem cells (NSC) for the variant (knock-in/KI) or for a frameshift variant (knock-out/KO) were generated. Study of NSCs demonstrated reduced total UGP2 protein expression upon Western Blot in the case of KI cells and depleted in KO ones. Transcriptome analysis did not show major transcriptome alterations in KI/KO ESCs compared to wt. In NSC KI/KO cells transcriptome alterations were observed compared to wt with upregulation among others of genes for synaptic processes and genes implicated in epilepsy.
- The absence of UGP2 was shown to result in reduced ability of KO/KI NSCs to produce UDP-glucose, reduced capacity to synthesize glycogen under hypoxia (rescued in the case of KO cells by overexpression of wt or long isoform), defects of protein glycosylation as well as in increased unfolded protein response (/susceptibility to ER stress). These alterations are commented to be possibly implicated in pathogenesis of epilepsy, progressive microcephaly, etc.
- A CRISPR-Cas9 zebrafish model leading with loss of ugp2a and hypomorphic ugp2b (the zebrafish homologs of UGP2) demonstrated abnormal behavior, reduced eye movements and increased frequency/duration of movements upon stimulation with a potent convulsant (suggestive of increased seizure susceptibility).
- UGP knockout in drosophila is lethal while flies compound heterozygous for hypomorphic alleles are viable but show a movement defects due to altered synaptogenesis secondary to glycosylation defects (cited PMID: 27466186).
- The authors make speculations as for the occurrence of a single variant (and not others) eg. absence of UGP2 (in the case of LoF variants affecting both isoforms) would possibly be incompatible with life, Met12Val being tolerable for the long transcript not affecting stability/enzymatic activity (which may not be the case for other substitutions affecting Met12), etc.
Sources: Literature
Genetic epilepsy syndromes v2.0 UGP2 Konstantinos Varvagiannis gene: UGP2 was added
gene: UGP2 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: UGP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGP2 were set to 31820119
Phenotypes for gene: UGP2 were set to Seizures; Global developmental delay; Intellectual disability; Feeding difficulties; Abnormality of vision; Abnormality of the face
Penetrance for gene: UGP2 were set to Complete
Review for gene: UGP2 was set to GREEN
Added comment: Perenthaler et al. (2019 - PMID: 31820119) provide evidence that homozygosity for a variant abolishing the start codon of the UGP2 transcript (NM_001001521.1) encoding the predominant (short) protein isoform in brain, leads to a severe epileptic encephalopathy.

This variant (chr2:64083454A>G / NM_001001521.1:c.1A>G - p.?) is also predicted to result in a substitution of a methionine at position 12 by a valine of the longer UGP2 transcript (NM_006759.3:c.34A>G - p.Met12Val).

The 2 isoforms differ only by 11 amino acids at the N-terminal and are otherwise expected to be functionally equivalent.

The authors provide details on 22 individuals from 15 families (some of which consanguineous).

Features included intractable seizures (in all), absence of developmental milestones (in all), progressive microcephaly, visual impairment. The authors reported also presence of somewhat similar facial features. Some of these individuals passed away early.

Previous work-up in several of them (incl. SNP-array, gene panel testing and metabolic investigations) had not revealed any abnormality, apart from ROH in some individuals. In all cases, the homozygous UGP2 SNV was the only P/LP variant for the neurodevelopmental phenotype following exome/genome sequencing. Segregation studies in affected/unaffected family members were compatible.

Families came from the Netherlands (but mostly from) India, Pakistan and Iran. Presence of a region of homozygosity shared between individuals from different families suggested that the variant might represent a mutation that originated several generations ago (in the area of Balochistan). The variant is present 15x in gnomAD, only in heterozygous state (in Asian mostly, reported once in Ashkenazi Jewish or Europeans) [ https://gnomad.broadinstitute.org/variant/2-64083454-A-G ].

UGP2 encodes UDP-glucose pyrophosphorylase which is an essential enzyme in sugar metabolism, catalyzing conversion of glucose-1-phosphate to UDP-glucose. UDP-glucose, in turn, serves as precursor for production of glycogen by glycogen synthase.

The authors provide several lines of evidence for a the role of the gene in the CNS as well as for the deleterious effect of the specific variant :
- In patient fibroblasts total UGP2 levels were not signifficantly different compared to parent / control fibroblasts, the longer isoform being upregulated (and stable) when the shorter is missing. Immunocytochemistry demonstrated similar localization of UGP2 in the case of mutant or wt cells. Enzymatic activity (/capacity to produce UDP-glucose) was similar between homozygous mut, heterozygous and wt fibroblasts.
- In H9-derived neural stem cells, Western Blot, RT-PCR and qRT-PCR suggested that the short isoform is the predominant one. (In embryonic stem cells, or fibroblasts the ratio between short and long isoform was lower).
- Analysis of RNA-seq data from human fetal tissues suggested that the short isoform is the predominant in brain.
- UGP2 was detected upon immunohistochemistry in fetal brain tissues from first to third trimester of pregnancy while Western Blot confirmed preferential expression of the shorter isoform.
- Homozygous embryonic (ESC) or neural stem cells (NSC) for the variant (knock-in/KI) or for a frameshift variant (knock-out/KO) were generated. Study of NSCs demonstrated reduced total UGP2 protein expression upon Western Blot in the case of KI cells and depleted in KO ones. Transcriptome analysis did not show major transcriptome alterations in KI/KO ESCs compared to wt. In NSC KI/KO cells transcriptome alterations were observed compared to wt with upregulation among others of genes for synaptic processes and genes implicated in epilepsy.
- The absence of UGP2 was shown to result in reduced ability of KO/KI NSCs to produce UDP-glucose, reduced capacity to synthesize glycogen under hypoxia (rescued in the case of KO cells by overexpression of wt or long isoform), defects of protein glycosylation as well as in increased unfolded protein response (/susceptibility to ER stress). These alterations are commented to be possibly implicated in pathogenesis of epilepsy, progressive microcephaly, etc.
- A CRISPR-Cas9 zebrafish model leading with loss of ugp2a and hypomorphic ugp2b (the zebrafish homologs of UGP2) demonstrated abnormal behavior, reduced eye movements and increased frequency/duration of movements upon stimulation with a potent convulsant (suggestive of increased seizure susceptibility).
- UGP knockout in drosophila is lethal while flies compound heterozygous for hypomorphic alleles are viable but show a movement defects due to altered synaptogenesis secondary to glycosylation defects (cited PMID: 27466186).
- The authors make speculations as for the occurrence of a single variant (and not others) eg. absence of UGP2 (in the case of LoF variants affecting both isoforms) would possibly be incompatible with life, Met12Val being tolerable for the long transcript not affecting stability/enzymatic activity (which may not be the case for other substitutions affecting Met12), etc.
Sources: Literature
Inborn errors of metabolism v2.1 PCYT2 Sarah Leigh edited their review of gene: PCYT2: Added comment: Vaz et al. (2019 - PMID: 31637422 - DDD study among the co-authors) report on 5 individuals - from 4 families - with biallelic PCYT2 mutations. The phenotype corresponded to a complex hererditary paraplegia with global DD, regression (4/5), ID (mild in 3/5, severe in 2/5), spastic para-/tetraparesis, epilepsy (5/5 - variable onset 2-16 yrs - focal or tonic-clonic seizures) and progressive cerebral and cerebellar atrophy. Exome sequencing in all revealed biallelic PCYT2 variants, confirmed with Sanger s. in probands and their parents (NM_001184917.2 - corresponding to the canonical transcript used as Ref below): - P1 (Fam1) : 2 missense SNVs in trans configuration, c.730C>T or p.His244Tyr and c.920C>T or p.Pro307Leu - P2 (Fam2 - consanguineous of White British origin), P3 (Fam3 - Consanguineous of Turkish origin), P4,5 (Fam4 - consanguineous, unspecified origin) : homozygosity for c.1129C>T or p.Arg377Ter) affecting the last exon of 8/12 transcripts, including the canonical one. Individuals with the same genotype displayed variable degrees of ID (eg P3 - severe / P2, P4,5 - mild ID). For sibs in Fam4, homozygosity for a missense SACS variant led to consideration of the respective disorder (AR spastic ataxia of Charlevoix-Saguenay) though the variant was predicted to be tolerated in silico and notably the MRI images not suggestive. All variants were absent from / had extremely low AF in public databases, with no homozygotes. Posphatidylethanolamine (PE) is a membrane lipid, particularly enriched in human brain (45% of phospholypid fraction). PE is synthesized either via the CDP-ethanolamine pathway or by decarboxylation of phosphatidylserine in mitochondria. PCYT2 encodes CTP:phosophoethanolamine cytidyltransferase (ET) which is an ubiquitously expressed rate-limiting enzyme for PE biosynthesis in the former pathway. In silico, the 2 missense variants - localizing in the CTP catalytic domain 2 - were predicted to be damaging, as well as to affect protein stability. Fibroblasts of 3 patients (P1, P2, P3) representing all variants were studied: - Enzymatic activity was shown to be significantly reduced (though not absent) compared to controls. Abnormalities were noted upon Western Blot incl. absence in all 3 patients studied of one of the 2 bands normally found in controls (probably representing the longer isoform), reduced intensity in all 3 of another band probably corresponding to a shorter isoform, and presence of an additional band of intermediate molec. mass in patients with the truncating variant. - RT-PCR on mRNA from patient fibroblasts did not reveal (significant) reduction compared to controls. - Lipidomic profile of patient fibroblasts was compatible with the location of the block in the phospholipid biosynthesis pathway and different from controls. The lipidomic profile had similarities with what has been reported for EPT1 deficiency, the enzyme directly downstream of ET. The SELENO1-related phenotype (/EPT1 deficiency) is also highly overlapping. CRISPR-Cas9 was used to generate pcyt2 partial or complete knockout (ko) zebrafish, targeting either the final (ex13) or another exon (ex3) respectively. mRNA expression was shown to be moderately reduced in the first case and severely reduced/absent in the second, compared to wt. Similarly, complete-ko (ex3) led to significantly lower survival, with impaired though somewhat better survival of partial-ko (ex13) zebrafish. Complete knockout of Pcyt2 in mice is embryonically lethal (PMID cited: 17325045) while heterozygous mice develop features of metabolic syndrome (PMID cited: 22764088). Given lethality in knockout zebrafish / mice and the residual activity (15-20%) in patient fibroblasts, the variants reported were thought to be hypomorphic and complete loss of function possibly incompatible with life. PCYT2 is not associated with any phenotype in OMIM/G2P/SysID and not commonly included in gene panels for ID. As a result this gene could included in the ID / epilepsy panels with green (~/>3 indiv/fam/variants with the nonsense found in different populations, consistent phenotype, lipidomics, in silico/in vitro/in vivo evidence) or amber rating. [Please consider inclusion in other possibly relevant panels eg. for metabolic disorders, etc]. Sources: Literature
Konstantinos Varvagiannis (Other), 11 Nov 2019; Changed rating: GREEN
Inborn errors of metabolism v2.1 PCYT2 Sarah Leigh gene: PCYT2 was added
gene: PCYT2 was added to Inborn errors of metabolism. Sources: Literature
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 31637422; 17325045; 22764088
Phenotypes for gene: PCYT2 were set to Global developmental delay; Developmental regression; Intellectual disability; Spastic paraparesis; Seizures; Spastic tetraparesis; Cerebral atrophy; Cerebellar atrophy
Review for gene: PCYT2 was set to RED
Added comment: This gene was added by an external reviewer and rated Green on Hereditary spastic paraplegia gene panel (Version 1.210), and confirmed with Zerin Hyder (Genomics England Clinical Team) that this is appropriate to be Green on the Inborn errors of metabolism panel. The rating of this gene will be changed when the next reiteration of this panel is made.
Sources: Literature
Hereditary ataxia - adult onset v2.0 ADPRHL2 Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2.
Hereditary ataxia - adult onset v2.0 ADPRHL2 Louise Daugherty commented on gene: ADPRHL2: Added new-gene-name tag, new approved HGNC gene symbol for ADPRHL2 is ADPRS
Intellectual disability v3.0 ADPRHL2 Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2.
Intellectual disability v3.0 ADPRHL2 Louise Daugherty commented on gene: ADPRHL2: Added new-gene-name tag, new approved HGNC gene symbol for ADPRHL2 is ADPRS
Genetic epilepsy syndromes v2.0 ADPRHL2 Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2.
Genetic epilepsy syndromes v2.0 ADPRHL2 Louise Daugherty commented on gene: ADPRHL2
DDG2P v2.0 ADPRHL2 Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2.
DDG2P v2.0 ADPRHL2 Louise Daugherty commented on gene: ADPRHL2
Palmoplantar keratodermas v1.0 LOR Louise Daugherty Tag new-gene-name tag was added to gene: LOR.
Palmoplantar keratodermas v1.0 LOR Louise Daugherty commented on gene: LOR
Ichthyosis and erythrokeratoderma v1.0 LOR Louise Daugherty Tag new-gene-name tag was added to gene: LOR.
Ichthyosis and erythrokeratoderma v1.0 LOR Louise Daugherty commented on gene: LOR
Childhood onset dystonia or chorea or related movement disorder v1.0 ICK Louise Daugherty Tag new-gene-name tag was added to gene: ICK.
Childhood onset dystonia or chorea or related movement disorder v1.0 ICK Louise Daugherty commented on gene: ICK
Hereditary neuropathy NOT PMP22 copy number v1.0 WARS Louise Daugherty Tag new-gene-name tag was added to gene: WARS.
Hereditary neuropathy NOT PMP22 copy number v1.0 WARS Louise Daugherty commented on gene: WARS: Added new-gene-name tag, new approved HGNC gene symbol for WARS is WARS1
Childhood onset dystonia or chorea or related movement disorder v1.0 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Cardiomyopathies - including childhood onset v1.0 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Cardiomyopathies - including childhood onset v1.0 MUT Louise Daugherty commented on gene: MUT
Hereditary neuropathy NOT PMP22 copy number v1.0 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
Childhood onset dystonia or chorea or related movement disorder v1.0 GARS Louise Daugherty Deleted their comment
Childhood onset dystonia or chorea or related movement disorder v1.0 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Childhood onset dystonia or chorea or related movement disorder v1.0 GARS Louise Daugherty commented on gene: GARS: Added new-gene-name tag, new approved HGNC gene symbol for GARS is GARS1
Hereditary neuropathy NOT PMP22 copy number v1.0 GARS Louise Daugherty Deleted their comment
Hereditary neuropathy NOT PMP22 copy number v1.0 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Hereditary neuropathy NOT PMP22 copy number v1.0 GARS Louise Daugherty commented on gene: GARS: Added new-gene-name tag, new approved HGNC gene symbol for GARS is GARS1
Mitochondrial disorders v2.3 GARS Louise Daugherty Tag new-gene-name tag was added to gene: GARS.
Skeletal dysplasia v2.0 FAM46A Louise Daugherty commented on gene: FAM46A
Skeletal dysplasia v2.0 FAM46A Louise Daugherty Tag new-gene-name tag was added to gene: FAM46A.
Renal ciliopathies v1.0 C5orf42 Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42.
Neurological ciliopathies v1.0 C5orf42 Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42.
Ophthalmological ciliopathies v1.0 C5orf42 Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42.
Childhood onset dystonia or chorea or related movement disorder v1.0 C5orf42 Louise Daugherty Deleted their comment
Childhood onset dystonia or chorea or related movement disorder v1.0 C5orf42 Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42.
Childhood onset dystonia or chorea or related movement disorder v1.0 C5orf42 Louise Daugherty commented on gene: C5orf42: Added new-gene-name tag, new approved HGNC gene symbol for C5orf42 is CPLANE1
Childhood onset dystonia or chorea or related movement disorder v1.0 C21orf2 Louise Daugherty Tag new-gene-name tag was added to gene: C21orf2.
Skeletal ciliopathies v1.0 C21orf2 Louise Daugherty Tag new-gene-name tag was added to gene: C21orf2.
Ophthalmological ciliopathies v1.0 C21orf2 Louise Daugherty Tag new-gene-name tag was added to gene: C21orf2.
Ophthalmological ciliopathies v1.0 C21orf2 Louise Daugherty commented on gene: C21orf2
Inborn errors of metabolism v2.0 C19orf70 Louise Daugherty commented on gene: C19orf70
Inborn errors of metabolism v2.0 C19orf70 Louise Daugherty Tag new-gene-name tag was added to gene: C19orf70.
Mitochondrial disorders v2.3 ATP5L2 Louise Daugherty commented on gene: ATP5L2
Mitochondrial disorders v2.3 ATP5L2 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5L2.
Mitochondrial disorders v2.3 ATP5L Louise Daugherty commented on gene: ATP5L
Mitochondrial disorders v2.3 ATP5L Louise Daugherty Tag new-gene-name tag was added to gene: ATP5L.
Mitochondrial disorders v2.3 ATP5J2 Louise Daugherty commented on gene: ATP5J2
Mitochondrial disorders v2.3 ATP5J2 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5J2.
Mitochondrial disorders v2.3 ATP5H Louise Daugherty commented on gene: ATP5H
Mitochondrial disorders v2.3 ATP5H Louise Daugherty Tag new-gene-name tag was added to gene: ATP5H.
Mitochondrial disorders v2.3 ATP5F1 Louise Daugherty commented on gene: ATP5F1
Mitochondrial disorders v2.3 ATP5F1 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5F1.
Inborn errors of metabolism v2.0 ATP5D Louise Daugherty Tag new-gene-name tag was added to gene: ATP5D.
Cardiomyopathies - including childhood onset v1.0 ATP5D Louise Daugherty Tag new-gene-name tag was added to gene: ATP5D.
Hereditary neuropathy NOT PMP22 copy number v1.0 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
Hereditary neuropathy NOT PMP22 copy number v1.0 AARS Louise Daugherty commented on gene: AARS: Added new-gene-name tag, new approved HGNC gene symbol for AARS is AARS1
Hereditary neuropathy NOT PMP22 copy number v1.0 SEPT9 Louise Daugherty commented on gene: SEPT9: Added new-gene-name tag, new approved HGNC gene symbol for SEPT9 is SEPTIN9
Hereditary neuropathy NOT PMP22 copy number v1.0 SEPT9 Louise Daugherty Tag new-gene-name tag was added to gene: SEPT9.
Congenital disorders of glycosylation v2.0 TMEM199 Sarah Leigh edited their review of gene: TMEM199: Added comment: Should be promoted from Red to Green, due to feedback from the GMS Metabolic Specialist disease test group: 4 patients from 3 unrelated families reported in the literature. All patients had a type 2 pattern on serum transferrin isoelectric focusing (IEF), indicating abnormal N-glycosylation, as well as abnormal IEF of ApoC-III, indicating abnormal O-glycosylation (PMID:26833330). Ellen McDonagh (Genomics England Curator), 4 Dec 2019.; Changed rating: GREEN; Changed publications: 26833330
Congenital disorders of glycosylation v2.0 DPM2 Sarah Leigh edited their review of gene: DPM2: Added comment: DPM2 should be rated as green due to the following: PMID 23109149 describes 3 children from 2 families with muscular dystrophy-dystroglycanopathy, plus good functional evidence this class of CDG can be associated with CMD - Arianna Tucci (Genomics England Clinical Fellow), Jan. 25, 2017, 4:41 p.m.; Changed rating: GREEN
Genetic epilepsy syndromes v2.0 KAT8 Konstantinos Varvagiannis gene: KAT8 was added
gene: KAT8 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: KAT8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KAT8 were set to 31794431
Phenotypes for gene: KAT8 were set to Global developmental delay; Intellectual disability; Seizures; Abnormality of vision; Feeding difficulties; Abnormality of the cardiovascular system; Autism
Penetrance for gene: KAT8 were set to unknown
Review for gene: KAT8 was set to GREEN
Added comment: Heterozygous pathogenic missense KAT8 variants have been reported in individuals with DD, ID and epilepsy. Variants occurred as de novo events within the chromobarrel or the acetyltransferase domain and were all shown to affect H4K16 acetylation, as would be predicted by the gene's function (lysine acetyltransferase). Evidence from brain specific Kat8 knockout in mouse, supports the role of the gene in brain development. One similarly affected individual compound heterozygous for a nonsense and a missense variant (the former affecting subnuclear localization and the latter H4K16ac) was also reported, with carrier relatives being unaffected. Mutations in genes of the MSL/NSL complexes (with which KAT8 forms multisubunit complexes) or genes in other acetyltransferases of the same subfamily (MYST) as KAT8 cause neurodevelopmental disorders [Details provided below].
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Li et al. (2019 - PMID: 31794431) report on 8 unrelated individuals with heterozygous de novo pathogenic KAT8 variants, as well as an additional one compound heterozygous for a nonsense and a missense one.

Overlapping phenotype consisted of DD/ID (8/8), seizures/epilepsy (6/8), brain MRI anomalies as well as presence of variable facial dysmorphic features. Less frequent features included abnormal vision (5/8), feeding difficulties (3/8), cardiac anomalies (3/8), autism (in 1).

The (9th) individual with biallelic variants had similar phenotype of DD/ID, epilepsy, autism and dysmorphic facial features. Heterozygous parents and sister, the latter carrier for the missense variant, were all unaffected.

All individuals had undergone exome sequencing, while extensive other investigations for at least 7/9 had only revealed variants of uncertain significance/contribution to the phenotype or were normal.

KAT8 encodes lysine acetyltransferase 8, which acetylates histone H4 at lysine 16 (H4K16). It belongs to the MYST subfamily of lysine acetyltransferases, the other members of which include KAT6A, KAT6B (both involved in neurodevelopmental disorders) and KAT5.

KAT8 forms two stoichiometric multisubunitcomplexes, one with the MSL complex and the other with the NSL. Mutations in genes encoding for subunits of the NSL or MSL complex (eg. KANSL1 and MSL3) are associated with neurodevelopmental disorders.

Overall 6 missense SNVs were reported among the heterozygous patients, p.Tyr90Cys (NM_032188.2:c.269A>G) being a recurrent one seen in 3. The compound heterozygous patient had a missense (c.973C>T / p.Arg325Cys) and a nonsense variant (c.523A>T / p.Lys175*). All missense variants lied either in the chromobarrel domain or the acetyltransferase domain. Variants in the latter domain localized within the KAT8/Mof-specific region or - in the case of the compound heterozygous individual - within the acetyl-CoA binding motif.

FLAG-tagged KAT8 (either wt or for all missense SNVs) was transfected in HEK293 cells with vectors for HA-tagged MSL proteins. While the nonsense variant was difficult to express, missense SNVs were expressed to similar levels to wt, promoted expression of MSL proteins but resulted in defective H4K16 acetylation and to a lesser extent H4K5 acetylation. As a result all missense variants impaired acetylation. This was also the case for chromobarrel domain variants, while expression of a KAT8 lacking the chromobarrel domain confirmed its ability to form complex with the MSL proteins and the impairment of H4K16 acetylation.

The nonsense variant demonstrated abnormal subnuclear localization.

The mouse model provides extensive evidence for the involvement of KAT8 in cerebral development. Cerebrum-specific Kat8 knockout mice presented postnatal growth retardation, hyperactivity/irritability, pre-weaning lethality, and cerebral hypoplasia upon autopsy. Loss of Kat8 reduced the number of neural stem and progenitor cells available for embryonic cerebrocortical development, impaired cell proliferation and stimulated apoptosis. The article also provides additional evidence from mouse model.
Sources: Literature
Intellectual disability v3.0 KAT8 Konstantinos Varvagiannis gene: KAT8 was added
gene: KAT8 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: KAT8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KAT8 were set to 31794431
Phenotypes for gene: KAT8 were set to Global developmental delay; Intellectual disability; Seizures; Abnormality of vision; Feeding difficulties; Abnormality of the cardiovascular system; Autism
Penetrance for gene: KAT8 were set to unknown
Review for gene: KAT8 was set to GREEN
Added comment: Heterozygous pathogenic missense KAT8 variants have been reported in individuals with DD, ID and epilepsy. Variants occurred as de novo events within the chromobarrel or the acetyltransferase domain and were all shown to affect H4K16 acetylation, as would be predicted by the gene's function (lysine acetyltransferase). Evidence from brain specific Kat8 knockout in mouse, supports the role of the gene in brain development. One similarly affected individual compound heterozygous for a nonsense and a missense variant (the former affecting subnuclear localization and the latter H4K16ac) was also reported, with carrier relatives being unaffected. Mutations in genes of the MSL/NSL complexes (with which KAT8 forms multisubunit complexes) or genes in other acetyltransferases of the same subfamily (MYST) as KAT8 cause neurodevelopmental disorders [Details provided below].
-----
Li et al. (2019 - PMID: 31794431) report on 8 unrelated individuals with heterozygous de novo pathogenic KAT8 variants, as well as an additional one compound heterozygous for a nonsense and a missense one.

Overlapping phenotype consisted of DD/ID (8/8), seizures/epilepsy (6/8), brain MRI anomalies as well as presence of variable facial dysmorphic features. Less frequent features included abnormal vision (5/8), feeding difficulties (3/8), cardiac anomalies (3/8), autism (in 1).

The (9th) individual with biallelic variants had similar phenotype of DD/ID, epilepsy, autism and dysmorphic facial features. Heterozygous parents and sister, the latter carrier for the missense variant, were all unaffected.

All individuals had undergone exome sequencing, while extensive other investigations for at least 7/9 had only revealed variants of uncertain significance/contribution to the phenotype or were normal.

KAT8 encodes lysine acetyltransferase 8, which acetylates histone H4 at lysine 16 (H4K16). It belongs to the MYST subfamily of lysine acetyltransferases, the other members of which include KAT6A, KAT6B (both involved in neurodevelopmental disorders) and KAT5.

KAT8 forms two stoichiometric multisubunitcomplexes, one with the MSL complex and the other with the NSL. Mutations in genes encoding for subunits of the NSL or MSL complex (eg. KANSL1 and MSL3) are associated with neurodevelopmental disorders.

Overall 6 missense SNVs were reported among the heterozygous patients, p.Tyr90Cys (NM_032188.2:c.269A>G) being a recurrent one seen in 3. The compound heterozygous patient had a missense (c.973C>T / p.Arg325Cys) and a nonsense variant (c.523A>T / p.Lys175*). All missense variants lied either in the chromobarrel domain or the acetyltransferase domain. Variants in the latter domain localized within the KAT8/Mof-specific region or - in the case of the compound heterozygous individual - within the acetyl-CoA binding motif.

FLAG-tagged KAT8 (either wt or for all missense SNVs) was transfected in HEK293 cells with vectors for HA-tagged MSL proteins. While the nonsense variant was difficult to express, missense SNVs were expressed to similar levels to wt, promoted expression of MSL proteins but resulted in defective H4K16 acetylation and to a lesser extent H4K5 acetylation. As a result all missense variants impaired acetylation. This was also the case for chromobarrel domain variants, while expression of a KAT8 lacking the chromobarrel domain confirmed its ability to form complex with the MSL proteins and the impairment of H4K16 acetylation.

The nonsense variant demonstrated abnormal subnuclear localization.

The mouse model provides extensive evidence for the involvement of KAT8 in cerebral development. Cerebrum-specific Kat8 knockout mice presented postnatal growth retardation, hyperactivity/irritability, pre-weaning lethality, and cerebral hypoplasia upon autopsy. Loss of Kat8 reduced the number of neural stem and progenitor cells available for embryonic cerebrocortical development, impaired cell proliferation and stimulated apoptosis. The article also provides additional evidence from mouse model.
Sources: Literature
Genetic epilepsy syndromes v2.0 RARS Konstantinos Varvagiannis gene: RARS was added
gene: RARS was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS were set to 31814314; 28905880; 24777941
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 616140
Penetrance for gene: RARS were set to Complete
Review for gene: RARS was set to GREEN
Added comment: Biallelic pathogenic RARS1 variants cause Leukodystrophy, hypomyelinating, 9 (# 616140).

The current review was based primarily on PMID: 31814314 (Mendes et al, 2019) providing details on 20 affected individuals from 15 families. 5 of these patients were included in a previous publication (Wolf et al, 2014 - PMID: 24777941) sharing authors with this study.

Clinical presentation and severity can be highly variable. However, among the 15 patients of relevant age (5/20 deceased at an early age), ID was observed in 13 (in 6/13 mild-moderate, in 7/13 severe/profound). Epilepsy was reported in half (10/20) with seizures being refractory to treatment in most and the phenotype corresponding to an infantile epileptic encephalopathy. DD and seizures were the presenting feature in 7 and 5 patients respectively, while in other cases presenting features were less specific (eg. failure to thrive in 1/20, irritabilty in 2/20). As a result the gene appears to be relevant to both DD/ID and epilepsy panels.

RARS1 encodes the cytoplasmic arginyl-tRNA synthetase 1, which is a component of the aminoacyl-tRNA synthetase complex (OMIM and Wolf et al, 2014 - PMID: 24777941). Aminoacyl-tRNA synthetases catalyze the aminoacylation ('charging') of tRNA by (with) their cognate amino acid.

Utilisation of alternative initiation codons, from a single mRNA transcript, results in translation of a long and a short protein isoform (Zheng et al 2006 - PMID: 16430231). The long isoform is needed for the formation of the multi-synthetase complex (MSC), while the short is free in the cytoplasm and does not have any interaction with the MSC. The long isoform appears to be essential for protein synthesis (discussed with several refs provided in PMID: 28905880 - Nafisinia et al, 2017).

The role of variants has been supported in several patients by additional studies - among others :
[PMID 31814314] Impaired Arginyl-tRNA synthetase activity was demonstrated in fibroblasts from 3 patients. Activity was normal in one additional individual compound heterozygous for a variant affecting initiation codon and a missense one. Western blot however demonstrated presence mainly of the short protein isoform. The authors suggest that this isoform possibly contributed to enzymatic activity. The long isoform which is needed for the MSC complex was only represented by a faint band in the Western Blot of the same individual.
[PMID: 28905880] Using fibroblasts from an affected subject homozygous for a missense variant (NM_002887.3:c.5A>G / p.Asp2Gly) and controls, a 75% reduction of the long isoform was shown upon WB. The short isoform was present at similar levels. As the N-terminus (of the long isoform) mediates interaction with the MSC (and AIMP1), assembly of the latter was 99% reduced in patient fibroblasts. Proliferation of patient fibroblasts was significantly reduced when cultured in a medium with limited arginine, a finding which was thought to reflect inefficient protein synthesis.

Mutations in other genes encoding for aminoacyl-tRNA synthetases (eg. AARS1, VARS1) or scaffolding proteins of the multisynthetase complex (eg. AIMP1 and AIMP2) lead to neurodevelopmental disorders with overlapping phenotype [most genes rated green in both the ID and epilepsy panel].
Sources: Literature
Intellectual disability v3.0 RARS Konstantinos Varvagiannis gene: RARS was added
gene: RARS was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS were set to 31814314; 28905880; 24777941
Phenotypes for gene: RARS were set to Cerebral hypomyelination; Global developmental delay; Intellectual disability; Seizures; Cerebral atrophy; Nystagmus; Ataxia; Feeding difficulties
Penetrance for gene: RARS were set to Complete
Review for gene: RARS was set to GREEN
Added comment: Biallelic pathogenic RARS1 variants cause Leukodystrophy, hypomyelinating, 9 (# 616140).

The current review was based primarily on PMID: 31814314 (Mendes et al, 2019) providing details on 20 affected individuals from 15 families. 5 of these patients were included in a previous publication (Wolf et al, 2014 - PMID: 24777941) sharing authors with this study.

Clinical presentation and severity can be highly variable. However, among the 15 patients of relevant age (5/20 deceased at an early age), ID was observed in 13 (in 6/13 mild-moderate, in 7/13 severe/profound). Epilepsy was reported in half (10/20) with seizures being refractory to treatment in most and the phenotype corresponding to an infantile epileptic encephalopathy. DD and seizures were the presenting feature in 7 and 5 patients respectively, while in other cases presenting features were less specific (eg. failure to thrive in 1/20, irritabilty in 2/20). As a result the gene appears to be relevant to both DD/ID and epilepsy panels.

RARS1 encodes the cytoplasmic arginyl-tRNA synthetase 1, which is a component of the aminoacyl-tRNA synthetase complex (OMIM and Wolf et al, 2014 - PMID: 24777941). Aminoacyl-tRNA synthetases catalyze the aminoacylation ('charging') of tRNA by (with) their cognate amino acid.

Utilisation of alternative initiation codons, from a single mRNA transcript, results in translation of a long and a short protein isoform (Zheng et al 2006 - PMID: 16430231). The long isoform is needed for the formation of the multi-synthetase complex (MSC), while the short is free in the cytoplasm and does not have any interaction with the MSC. The long isoform appears to be essential for protein synthesis (discussed with several refs provided in PMID: 28905880 - Nafisinia et al, 2017).

The role of variants has been supported in several patients by additional studies - among others :
[PMID 31814314] Impaired Arginyl-tRNA synthetase activity was demonstrated in fibroblasts from 3 patients. Activity was normal in one additional individual compound heterozygous for a variant affecting initiation codon and a missense one. Western blot however demonstrated presence mainly of the short protein isoform. The authors suggest that this isoform possibly contributed to enzymatic activity. The long isoform which is needed for the MSC complex was only represented by a faint band in the Western Blot of the same individual.
[PMID: 28905880] Using fibroblasts from an affected subject homozygous for a missense variant (NM_002887.3:c.5A>G / p.Asp2Gly) and controls, a 75% reduction of the long isoform was shown upon WB. The short isoform was present at similar levels. As the N-terminus (of the long isoform) mediates interaction with the MSC (and AIMP1), assembly of the latter was 99% reduced in patient fibroblasts. Proliferation of patient fibroblasts was significantly reduced when cultured in a medium with limited arginine, a finding which was thought to reflect inefficient protein synthesis.

Mutations in other genes encoding for aminoacyl-tRNA synthetases (eg. AARS1, VARS1) or scaffolding proteins of the multisynthetase complex (eg. AIMP1 and AIMP2) lead to neurodevelopmental disorders with overlapping phenotype [most genes rated green in both the ID and epilepsy panel].
Sources: Literature
CAKUT v1.41 Ellen McDonagh Panel types changed to Rare Disease 100K
Hereditary neuropathy NOT PMP22 copy number v1.0 Louise Daugherty promoted panel to version 1.0
Hereditary neuropathy NOT PMP22 copy number v0.108 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Hereditary neuropathy NOT PMP22 copy number v0.107 ABCA1 Louise Daugherty changed review comment from: Comment on list classification: Changed from Amber to Green - is a very rare condition, the primary feature can be neuropathy so if abnormalities of lipids or tonsils are missed or not present the diagnosis will not be made. However if there is a second panel to go to after the primary neuropathy panel and it is on it then it should still be diagnosed as long as a patient with primary neuropathy only would still be eligible for the more syndromic panel.; to: Comment on list classification: Changed from Amber to Green - recommendation from Genomics England clinical ream - is a very rare condition, the primary feature can be neuropathy so if abnormalities of lipids or tonsils are missed or not present the diagnosis will not be made. However if there is a second panel to go to after the primary neuropathy panel and it is on it then it should still be diagnosed as long as a patient with primary neuropathy only would still be eligible for the more syndromic panel.
Hereditary neuropathy NOT PMP22 copy number v0.107 ABCA1 Louise Daugherty Classified gene: ABCA1 as Green List (high evidence)
Hereditary neuropathy NOT PMP22 copy number v0.107 ABCA1 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green - is a very rare condition, the primary feature can be neuropathy so if abnormalities of lipids or tonsils are missed or not present the diagnosis will not be made. However if there is a second panel to go to after the primary neuropathy panel and it is on it then it should still be diagnosed as long as a patient with primary neuropathy only would still be eligible for the more syndromic panel.
Hereditary neuropathy NOT PMP22 copy number v0.107 ABCA1 Louise Daugherty Gene: abca1 has been classified as Green List (High Evidence).
Hereditary neuropathy NOT PMP22 copy number v0.106 VCP Louise Daugherty Classified gene: VCP as Amber List (moderate evidence)
Hereditary neuropathy NOT PMP22 copy number v0.106 VCP Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber from recommendation from Alex Rossor - only two published cases of VCP and neuropathy. P.Glu185Lys is absent form GNOMAD but p.Glu185Asp is present 4 times. I don’t think there have been any more cases. Might it be better as Amber for neuropathy?
Hereditary neuropathy NOT PMP22 copy number v0.106 VCP Louise Daugherty Gene: vcp has been classified as Amber List (Moderate Evidence).
Rare multisystem ciliopathy Super panel v4.3 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off
Cystic kidney disease v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Rare multisystem ciliopathy Super panel v4.2 Ellen McDonagh Panel status changed from internal to public
Rare multisystem ciliopathy disorders v1.123 Ellen McDonagh Panel types changed to Rare Disease 100K
Rare multisystem ciliopathy Super panel v4.1 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Super Panel
Primary ovarian insufficiency v1.17 Ellen McDonagh Panel types changed to Rare Disease 100K
Neuromuscular disorders v5.9 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off
Sudden cardiac death v9.11 Ivone Leong Changed child panels to: Arrhythmogenic cardiomyopathy; Long QT syndrome; Hypertrophic cardiomyopathy - teen and adult; Short QT syndrome; Catecholaminergic polymorphic VT; Brugada syndrome; Dilated cardiomyopathy - adult and teen; Progressive cardiac conduction disease
Intracerebral calcification disorders v1.18 Ellen McDonagh Panel types changed to Rare Disease 100K
Short QT syndrome v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Gastrointestinal neuromuscular disorders v1.11 Ellen McDonagh Panel types changed to Rare Disease 100K
Familial pulmonary fibrosis v1.7 Ellen McDonagh Panel types changed to Rare Disease 100K
Cardiac arrhythmias - additional genes v1.2 Ivone Leong Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Familial dysautonomia v1.8 Ellen McDonagh Panel types changed to Rare Disease 100K
Dilated cardiomyopathy - adult and teen v1.1 Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Extreme early-onset hypertension v1.11 Ellen McDonagh Panel types changed to Rare Disease 100K
Familial cerebral small vessel disease v1.7 Louise Daugherty Panel types changed to Rare Disease 100K
Progressive cardiac conduction disease v1.1 Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Hypertrophic cardiomyopathy - teen and adult v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Brugada syndrome v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Catecholaminergic polymorphic VT v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Long QT syndrome v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Arrhythmogenic cardiomyopathy v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Ataxia and cerebellar anomalies - narrow panel v2.0 PTRH2 Ellen Thomas edited their review of gene: PTRH2: Changed rating: GREEN
Ataxia and cerebellar anomalies - narrow panel v2.0 PTRH2 Ellen Thomas gene: PTRH2 was added
gene: PTRH2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Other
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRH2 were set to 25574476; 28328138
Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
Added comment: Currently on adult ataxia panel; more suitable for childhood onset panel
Sources: Other
Paediatric disorders v14.2 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off
Growth failure in early childhood v1.3 CEP57 Ellen Thomas gene: CEP57 was added
gene: CEP57 was added to Growth failure in early childhood. Sources: Other
Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP57 were set to 24259107; 21552266
Phenotypes for gene: CEP57 were set to Mosaic variegated aneuploidy syndrome 2
Review for gene: CEP57 was set to GREEN
Added comment: Phenotype includes IUGR and growth failure; green on other panels
Sources: Other
Skeletal dysplasia v2.0 Eleanor Williams promoted panel to version 2.0
Skeletal dysplasia v1.343 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Skeletal dysplasia v1.342 TTC8 Eleanor Williams Classified gene: TTC8 as Green List (high evidence)
Skeletal dysplasia v1.342 TTC8 Eleanor Williams Gene: ttc8 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.341 ALX1 Eleanor Williams Classified gene: ALX1 as Green List (high evidence)
Skeletal dysplasia v1.341 ALX1 Eleanor Williams Added comment: Comment on list classification: Rating green due to association with FRONTONASAL DYSPLASIA TYPE 3. Other Frontonasal dysplasia genes ALX3 and ALX4 have been included on this panel. Including on the panel following the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.341 ALX1 Eleanor Williams Gene: alx1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.340 ALX1 Eleanor Williams commented on gene: ALX1: This gene is provisionally associated with ?Frontonasal dysplasia 3 (#613456) in OMIM. Has a confirmed association with FRONTONASAL DYSPLASIA TYPE 3 in Gene2Phenotype.

PMID: 20451171 - Uz et al. (2010) - 2 families presenting with autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of the ala nasi, and low-set, posteriorly rotated ears in two distinct families. In one family they found a three siblings were affected, and CNV analysis of the critical region showed a homozygous 3.7 Mb deletion containing the ALX1 (CART1) gene. In the second family a homozygous donor-splice-site mutation (c.531+1G > A) in the ALX1 gene was found.

PMID: 27324866 - Ullah et al 2017 - report a consanguineous family from Pakistan with four individuals presenting a milder form of Frontonasal dysplasia. Using exome sequencing, a homozygous splice acceptor site variant has been identified in the ALX1 gene. The affected individuals had ptosis (drooping upper eyelid), small and upslanting palpebral fissures, blepharophimosis, broad nasal root, wide prominent nasal bridge, short and wide nasal ridge, broad columella, smooth philtrum, and mouth protrusion accompanied by teeth protrusion NOTE: no clefting reported in the individuals from this family.

PMID: 26610632 - Lyons et al 2015 - The “Contemporary” Burmese lineage of cats has a more brachycephalic head type. Offspring from “Contemporary” style mating produced a craniofacial defect in 25% of offspring (Noden and Evans, 1986; Sponenberg and Graf-Webster, 1986). The abnormality is characterized by agenesis of all derivatives of the medial nasal prominence; lateral duplication of most derivatives of the maxillary process; including the canine teeth and whiskers fields; telencephalic meningoencephalocele; and secondary ocular degeneration . The midline facial defect is autosomal recessive, however, carriers of the mutation are more brachycephalic individuals than wildtype, The entire ALX1 CDS sequence was analyzed in ten cats, including five affected Burmese and five controls. A 12 bp deletion (c.496delCTCTCAGGACTG) was identified in the coding region of ALX1. All the unaffected cats in the pedigree were confirmed to be homozygous wild-type or carrier of the 12 bp deletion while all the affected cats were homozygous for the identified variant. The average CDS homology between human and cat is 93.8% and the protein identity is 97.5%.
Skeletal dysplasia v1.340 WDPCP Eleanor Williams Classified gene: WDPCP as Green List (high evidence)
Skeletal dysplasia v1.340 WDPCP Eleanor Williams Added comment: Comment on list classification: Making this gene green as it is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.340 WDPCP Eleanor Williams Gene: wdpcp has been classified as Green List (High Evidence).
Skeletal dysplasia v1.339 WDPCP Eleanor Williams Phenotypes for gene: WDPCP were changed from to ?Congenital heart defects, hamartomas of tongue, and polysyndactyly 217085; ?Bardet-Biedl syndrome 15, 615992
Skeletal dysplasia v1.338 WDPCP Eleanor Williams Publications for gene: WDPCP were set to
Skeletal dysplasia v1.337 WDPCP Eleanor Williams Mode of inheritance for gene: WDPCP was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.336 TTC8 Eleanor Williams Classified gene: TTC8 as Red List (low evidence)
Skeletal dysplasia v1.336 TTC8 Eleanor Williams Added comment: Comment on list classification: Making this gene green as it is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.336 TTC8 Eleanor Williams Gene: ttc8 has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.335 TTC8 Eleanor Williams Phenotypes for gene: TTC8 were changed from to Polydactyly; Bardet-Biedl syndrome 8, 615985
Skeletal dysplasia v1.334 TTC8 Eleanor Williams Mode of inheritance for gene: TTC8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.333 TRIM32 Eleanor Williams Classified gene: TRIM32 as Red List (low evidence)
Skeletal dysplasia v1.333 TRIM32 Eleanor Williams Added comment: Comment on list classification: Keeping this gene red as it is is red on the GMS Bardet Biedl syndrome panel (v1.0). Also associated with Muscular dystrophy, limb-girdle, autosomal recessive 8 but no skeletal phenotype is present in this disorder.
Skeletal dysplasia v1.333 TRIM32 Eleanor Williams Gene: trim32 has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.332 TRIM32 Eleanor Williams Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, 615988; Polydactyly
Skeletal dysplasia v1.331 SDCCAG8 Eleanor Williams Classified gene: SDCCAG8 as Red List (low evidence)
Skeletal dysplasia v1.331 SDCCAG8 Eleanor Williams Added comment: Comment on list classification: This gene is a Bardet-Biedl syndrome gene but polydactyly is not part of the phenotype - see clinical features listed in OMIM https://omim.org/entry/615993. Therefore keeping this gene red on the skeletal dysplasia panel.
Skeletal dysplasia v1.331 SDCCAG8 Eleanor Williams Gene: sdccag8 has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.330 SDCCAG8 Eleanor Williams Phenotypes for gene: SDCCAG8 were changed from Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 to Bardet-Biedl syndrome 16, 615993
Skeletal dysplasia v1.329 SDCCAG8 Eleanor Williams Phenotypes for gene: SDCCAG8 were changed from to Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993
Skeletal dysplasia v1.328 SDCCAG8 Eleanor Williams Mode of inheritance for gene: SDCCAG8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.327 MKKS Eleanor Williams Classified gene: MKKS as Green List (high evidence)
Skeletal dysplasia v1.327 MKKS Eleanor Williams Added comment: Comment on list classification: Making this gene green as it is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.327 MKKS Eleanor Williams Gene: mkks has been classified as Green List (High Evidence).
Skeletal dysplasia v1.326 MKKS Eleanor Williams Phenotypes for gene: MKKS were changed from to Polydactyly; Bardet-Biedl syndrome 6, 605231; McKusick-Kaufman syndrome, 236700
Skeletal dysplasia v1.325 MKKS Eleanor Williams Mode of inheritance for gene: MKKS was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.324 CCDC28B Eleanor Williams Classified gene: CCDC28B as Red List (low evidence)
Skeletal dysplasia v1.324 CCDC28B Eleanor Williams Added comment: Comment on list classification: Keeping this gene on the panel as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0). Modifier gene.
Skeletal dysplasia v1.324 CCDC28B Eleanor Williams Gene: ccdc28b has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.323 CCDC28B Eleanor Williams Mode of inheritance for gene: CCDC28B was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.322 CCDC28B Eleanor Williams Publications for gene: CCDC28B were set to
Skeletal dysplasia v1.321 CCDC28B Eleanor Williams Phenotypes for gene: CCDC28B were changed from to {Bardet-Biedl syndrome 1, modifier of}, 209900
Skeletal dysplasia v1.320 BBS9 Eleanor Williams Classified gene: BBS9 as Green List (high evidence)
Skeletal dysplasia v1.320 BBS9 Eleanor Williams Added comment: Comment on list classification: Making this gene green as it is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.320 BBS9 Eleanor Williams Gene: bbs9 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.319 BBS9 Eleanor Williams Phenotypes for gene: BBS9 were changed from to Polydactyly; Bardet Biedl syndrome 9, 615986
Skeletal dysplasia v1.318 BBS9 Eleanor Williams Mode of inheritance for gene: BBS9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.317 BBS7 Eleanor Williams Classified gene: BBS7 as Green List (high evidence)
Skeletal dysplasia v1.317 BBS7 Eleanor Williams Gene: bbs7 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.316 BBS7 Eleanor Williams Classified gene: BBS7 as Red List (low evidence)
Skeletal dysplasia v1.316 BBS7 Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.316 BBS7 Eleanor Williams Gene: bbs7 has been classified as Red List (Low Evidence).
Skeletal dysplasia v1.315 BBS7 Eleanor Williams Phenotypes for gene: BBS7 were changed from to Polydactyly; Bardet-Biedl syndrome 7, 615984
Skeletal dysplasia v1.314 BBS7 Eleanor Williams Mode of inheritance for gene: BBS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.313 BBS5 Eleanor Williams Classified gene: BBS5 as Green List (high evidence)
Skeletal dysplasia v1.313 BBS5 Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.313 BBS5 Eleanor Williams Gene: bbs5 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.312 BBS5 Eleanor Williams Phenotypes for gene: BBS5 were changed from to Polydactyly; Bardet Biedl syndrome 5, 615983
Skeletal dysplasia v1.311 BBS5 Eleanor Williams Mode of inheritance for gene: BBS5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.310 BBS4 Eleanor Williams Classified gene: BBS4 as Green List (high evidence)
Skeletal dysplasia v1.310 BBS4 Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.310 BBS4 Eleanor Williams Gene: bbs4 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.309 BBS4 Eleanor Williams Phenotypes for gene: BBS4 were changed from to Polydactyly; Bardet-Biedl syndrome 4, 615982
Skeletal dysplasia v1.308 BBS4 Eleanor Williams Mode of inheritance for gene: BBS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.307 BBS2 Eleanor Williams Classified gene: BBS2 as Green List (high evidence)
Skeletal dysplasia v1.307 BBS2 Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.307 BBS2 Eleanor Williams Gene: bbs2 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.306 BBS2 Eleanor Williams Phenotypes for gene: BBS2 were changed from to Polydactyly; Bardet-Biedl syndrome 2, 615981
Skeletal dysplasia v1.305 BBS2 Eleanor Williams Mode of inheritance for gene: BBS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.304 BBS12 Eleanor Williams Classified gene: BBS12 as Green List (high evidence)
Skeletal dysplasia v1.304 BBS12 Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.304 BBS12 Eleanor Williams Gene: bbs12 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.303 BBS12 Eleanor Williams Phenotypes for gene: BBS12 were changed from to Polydactyly; Bardet Biedl syndrome 12, 615989
Skeletal dysplasia v1.302 BBS12 Eleanor Williams Mode of inheritance for gene: BBS12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.301 BBS10 Eleanor Williams Classified gene: BBS10 as Green List (high evidence)
Skeletal dysplasia v1.301 BBS10 Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.301 BBS10 Eleanor Williams Gene: bbs10 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.300 BBS10 Eleanor Williams Phenotypes for gene: BBS10 were changed from to Polydactyly; Bardet Biedl syndrome 10, 615987
Skeletal dysplasia v1.299 BBS10 Eleanor Williams Mode of inheritance for gene: BBS10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.298 BBS1 Eleanor Williams Classified gene: BBS1 as Green List (high evidence)
Skeletal dysplasia v1.298 BBS1 Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.298 BBS1 Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.297 BBS1 Eleanor Williams Phenotypes for gene: BBS1 were changed from to Polydactyly; Bardet-Biedl syndrome 1 209900
Skeletal dysplasia v1.297 BBS1 Eleanor Williams Publications for gene: BBS1 were set to
Skeletal dysplasia v1.296 BBS1 Eleanor Williams Mode of inheritance for gene: BBS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v1.1 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Autosomal recessive primary hypertrophic osteoarthropathy v1.1 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Rare genetic inflammatory skin disorders v1.3 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Palmoplantar keratodermas v1.0 Catherine Snow promoted panel to version 1.0
Palmoplantar keratodermas v0.11 Catherine Snow List of related panels changed from to R166
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Mosaic skin disorders - deep sequencing v1.0 Catherine Snow promoted panel to version 1.0
Mosaic skin disorders - deep sequencing v0.24 Catherine Snow List of related panels changed from to R327
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Multiple monogenic benign skin tumours v1.0 Ellen McDonagh promoted panel to version 1.0
Multiple monogenic benign skin tumours v0.16 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.0 Louise Daugherty promoted panel to version 2.0
Multiple monogenic benign skin tumours v0.15 Ellen McDonagh List of related panels changed from to R230
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel
Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v1.9 Louise Daugherty List of related panels changed from Cockayne and Xeroderma Pigmentosum-like disorders; Cockayne syndrome; Xeroderma Pigmentosum-like disorders; XP-like disorders to Cockayne and Xeroderma Pigmentosum-like disorders; Cockayne syndrome; Xeroderma Pigmentosum-like disorders; XP-like disorders; R227
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Rare genetic inflammatory skin disorders v1.1 Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS Cancer Germline Virtual; GMS signed-off
Epidermodysplasia verruciformis v1.0 Ellen McDonagh promoted panel to version 1.0
Epidermodysplasia verruciformis v0.15 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Hypotonic infant v9.1 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off
Epidermodysplasia verruciformis v0.14 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel
Epidermodysplasia verruciformis v0.13 Ellen McDonagh List of related panels changed from to R255
Mosaic skin disorders - deep sequencing v0.23 TEK Catherine Snow Classified gene: TEK as Amber List (moderate evidence)
Mosaic skin disorders - deep sequencing v0.23 TEK Catherine Snow Gene: tek has been classified as Amber List (Moderate Evidence).
Mosaic skin disorders - deep sequencing v0.22 TEK Catherine Snow gene: TEK was added
gene: TEK was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TEK were set to 27519652
Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal, 600195
Review for gene: TEK was set to AMBER
Added comment: As advised by Genomics England clinician - "TEK is currently green on vascular and DDG2P panels, activating germline mutations cause cutaneous mucosal venous malformations, somatic mutations cause blue rubber bleb naevus syndrome. I don’t know how much evidence there is for blood mosaicism detection (versus tissue testing). Soblet et al, 2017, (PMID 27519652), didn’t find the pathogenic variants (identified through tissue testing) with targeted deep sequencing in blue rubber bleb naevus syndrome, but did find one at the 1-5% level in sporadic multifocal vascular malformation (probably all related conditions??). As not much targeted deep sequencing has been done it’s possible this would be a good future one.
Sources: Expert Review
Autosomal recessive primary hypertrophic osteoarthropathy v1.0 Ivone Leong promoted panel to version 1.0
Skeletal dysplasia v1.295 ARL6 Eleanor Williams Classified gene: ARL6 as Green List (high evidence)
Skeletal dysplasia v1.295 ARL6 Eleanor Williams Added comment: Comment on list classification: Making this gene green as is is green on the Limb disorders panel for polydactyly. Including on the advice of Prof Lyn Chitty.
Skeletal dysplasia v1.295 ARL6 Eleanor Williams Gene: arl6 has been classified as Green List (High Evidence).
Autosomal recessive primary hypertrophic osteoarthropathy v0.12 Ivone Leong List of related panels changed from to R167
Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Skeletal dysplasia v1.294 ARL6 Eleanor Williams Phenotypes for gene: ARL6 were changed from to Polydactyly; Bardet-Biedl syndrome 3 600151
Skeletal dysplasia v1.294 ARL6 Eleanor Williams Publications for gene: ARL6 were set to
Skeletal dysplasia v1.293 ARL6 Eleanor Williams Mode of inheritance for gene: ARL6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v1.0 Ivone Leong promoted panel to version 1.0
Ectodermal dysplasia v0.36 Ivone Leong List of related panels changed from to R163
Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Vascular skin disorders v1.0 Louise Daugherty promoted panel to version 1.0
Vascular skin disorders v0.39 Louise Daugherty List of related panels changed from to R326
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Ichthyosis and erythrokeratoderma v1.0 Catherine Snow promoted panel to version 1.0
Rare genetic inflammatory skin disorders v1.0 Ellen McDonagh promoted panel to version 1.0
Ichthyosis and erythrokeratoderma v0.19 Catherine Snow List of related panels changed from to R165
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Rare genetic inflammatory skin disorders v0.23 Ellen McDonagh List of related panels changed from to R332
Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
Fetal anomalies v1.0 Rebecca Foulger promoted panel to version 1.0
Pigmentary skin disorders v1.0 Louise Daugherty promoted panel to version 1.0
Pigmentary skin disorders v0.28 Louise Daugherty List of related panels changed from to R236
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Fetal anomalies v0.375 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Cutaneous photosensitivity with a likely genetic cause v1.0 Louise Daugherty promoted panel to version 1.0
Epidermolysis bullosa and congenital skin fragility v1.0 Catherine Snow promoted panel to version 1.0
Epidermolysis bullosa and congenital skin fragility v0.27 Catherine Snow List of related panels changed from to R164
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Cutaneous photosensitivity with a likely genetic cause v0.12 Louise Daugherty List of related panels changed from to R237
Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Segmental overgrowth disorders v2.0 Ivone Leong promoted panel to version 2.0
Segmental overgrowth disorders v1.11 Ivone Leong List of related panels changed from Regional overgrowth disorders to Regional overgrowth disorders; R110
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Ichthyosis and erythrokeratoderma v0.18 FLG2 Catherine Snow Classified gene: FLG2 as Green List (high evidence)
Ichthyosis and erythrokeratoderma v0.18 FLG2 Catherine Snow Added comment: Comment on list classification: Sufficient number of variants in OMIM to rate as Green
Ichthyosis and erythrokeratoderma v0.18 FLG2 Catherine Snow Gene: flg2 has been classified as Green List (High Evidence).
White matter disorders - childhood onset v6.3 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; Super Panel; GMS signed-off
Rare genetic inflammatory skin disorders v0.22 KIT Catherine Snow reviewed gene: KIT: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: None
Mosaic skin disorders - deep sequencing v0.21 NF2 Catherine Snow Classified gene: NF2 as Green List (high evidence)
Mosaic skin disorders - deep sequencing v0.21 NF2 Catherine Snow Gene: nf2 has been classified as Green List (High Evidence).
White matter disorders and cerebral calcification - narrow panel v1.11 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
White matter disorders and cerebral calcification - narrow panel v1.10 Louise Daugherty Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel
Mosaic skin disorders - deep sequencing v0.20 NF2 Catherine Snow gene: NF2 was added
gene: NF2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Rev