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Unexplained young onset end-stage renal disease v3.41 GLI3 Arina Puzriakova Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome; Pallister-Hall syndrome 146510 to Pallister-Hall syndrome, OMIM:146510
Unexplained young onset end-stage renal disease v3.40 DLG5 Arina Puzriakova Phenotypes for gene: DLG5 were changed from DLG5-associated developmental disorder (monoallelic); DLG5-associated developmental disorder (biallelic) to Yuksel-Vogel-Bauser syndrome, OMIM:620703
Unexplained young onset end-stage renal disease v3.39 SMARCAL1 Arina Puzriakova Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia 242900 to Schimke immunoosseous dysplasia, OMIM:242900
Unexplained young onset end-stage renal disease v3.38 DYNC2H1 Arina Puzriakova Phenotypes for gene: DYNC2H1 were changed from Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Short-rib thoracic dysplasia 3 with or without polydactyly, 613091; Short-rib thoracic dysplasia 3 with or without polydactyly; Jeune syndrome to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
Unexplained young onset end-stage renal disease v3.37 CLCNKB Achchuthan Shanmugasundram Publications for gene: CLCNKB were set to
Unexplained young onset end-stage renal disease v3.36 CLCNKB Achchuthan Shanmugasundram Phenotypes for gene: CLCNKB were changed from Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 3, MONDO:0011822; Bartter disease type 4B, MONDO:0000909; Bartter syndrome, type 3, OMIM:607364 to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822
Unexplained young onset end-stage renal disease v3.35 CLCNKB Achchuthan Shanmugasundram Tag monogenic-polygenic tag was added to gene: CLCNKB.
Unexplained young onset end-stage renal disease v3.35 CLCNKB Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Sarah Leigh in 'R256 Nephrocalcinosis or nephrolithiasis' and 'R198 Renal tubulopathies' panels, the mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), this phenotype is not relevant to this panel and the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Unexplained young onset end-stage renal disease v3.35 CLCNKB Achchuthan Shanmugasundram Mode of inheritance for gene: CLCNKB was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.34 CLCNKB Achchuthan Shanmugasundram edited their review of gene: CLCNKB: Changed publications to: 120550, 9326936, 15717167; Changed phenotypes to: Bartter syndrome, type 3, OMIM:607364, Bartter disease type 3, MONDO:0011822; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.34 WDR72 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/) and 'R256 Nephrocalcinosis or nephrolithiasis'(https://panelapp.genomicsengland.co.uk/panels/149/gene/WDR72/), this gene should be promoted to green rating in this panel as well.; to: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/) and 'R256 Nephrocalcinosis or nephrolithiasis' (https://panelapp.genomicsengland.co.uk/panels/149/gene/WDR72/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.34 WDR72 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/), this gene should be promoted to green rating in this panel as well.; to: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/) and 'R256 Nephrocalcinosis or nephrolithiasis'(https://panelapp.genomicsengland.co.uk/panels/149/gene/WDR72/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.34 RMND1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/RMND1/), this gene should be promoted to green rating in this panel as well.; to: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/RMND1/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.34 RMND1 Achchuthan Shanmugasundram Classified gene: RMND1 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v3.34 RMND1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/RMND1/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.34 RMND1 Achchuthan Shanmugasundram Gene: rmnd1 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v3.33 RMND1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: RMND1.
Unexplained young onset end-stage renal disease v3.33 RMND1 Achchuthan Shanmugasundram gene: RMND1 was added
gene: RMND1 was added to Unexplained young onset end-stage renal disease. Sources: Literature
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMND1 were set to 31568715; 31889854; 32911714
Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, OMIM:614922
Review for gene: RMND1 was set to GREEN
Added comment: PMID:31568715 - Four patients identified with pathogenic variants in RMND1 were reported with renal disease characterised by tubulopathy (3/4), renal tubular acidosis (2/4), interstitial nephritis (1/4), and/or end-stage renal disease (4/4) necessitating renal transplantation (2/4).

PMID:31889854 - A very rare homozygous pathogenic variant in RMND1 (p.Val211Met) was identified in a patient presenting with chronic kidney disease (CKD) and sensorineural hearing loss (SNHL).

PMID:32911714 - Compound heterozygous missense variants in RMND1 (p.Gly195Arg & p.Tyr273Ser) was identified in female siblings presenting with severe-to-profound bilateral SNHL, ovarian dysfunction and CKD that developed in the fourth decade of life.

This gene has been associated with relevant phenotypes in both OMIM (MIM #614922) and Gene2Phenotype. The clinical manifestations such as cystic kidneys, renal tubular acidosis and renal disease have been recorded as part of the OMIM phenotype.
Sources: Literature
Unexplained young onset end-stage renal disease v3.32 WDR72 Achchuthan Shanmugasundram Classified gene: WDR72 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v3.32 WDR72 Achchuthan Shanmugasundram Added comment: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.32 WDR72 Achchuthan Shanmugasundram Gene: wdr72 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v3.31 WDR72 Achchuthan Shanmugasundram Phenotypes for gene: WDR72 were changed from Amelogenesis imperfecta, type IIA3, OMIM:613211 to hereditary distal renal tubular acidosis; distal renal tubular acidosis, MONDO:0015827; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181
Unexplained young onset end-stage renal disease v3.30 WDR72 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: WDR72.
Unexplained young onset end-stage renal disease v3.30 WDR72 Achchuthan Shanmugasundram edited their review of gene: WDR72: Changed phenotypes to: hereditary distal renal tubular acidosis, distal renal tubular acidosis, MONDO:0015827, Amelogenesis imperfecta, type IIA3, OMIM:613211, amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181
Unexplained young onset end-stage renal disease v3.30 WDR72 Achchuthan Shanmugasundram edited their review of gene: WDR72: Changed rating: GREEN
Unexplained young onset end-stage renal disease v3.30 WDR72 Achchuthan Shanmugasundram gene: WDR72 was added
gene: WDR72 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review
Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR72 were set to 30028003; 30779877; 31959358; 33033857
Phenotypes for gene: WDR72 were set to Amelogenesis imperfecta, type IIA3, OMIM:613211
Review for gene: WDR72 was set to RED
Added comment: Reviews from Eleanor Williams in 'R198 Renal tubulopathies' panel:

Additional families reported with distal renal tubular acidosis, along with amelogenesis imperfecta.

PMID: 30779877 (Zhang et al 2019) - 6 families (1 African, 5 Turkish) identified using WES with biallelic WDR72 variants. The affected members showed generalized hypomaturation Amelogenesis imperfecta. 2 families, although unrelated, shared the same variant. 3 out of the 8 tested patients showed decreased serum pH, consistent with a diagnosis of renal tubular acidosis.

PMID: 31959358 - (Jobst-Schwan et al 2020) - 2 families (Indian, Turkish) with different homozygous variants in WDR72 identified by WES. All 3 affected individuals had Distal renal tubular acidosis. 1 individual is reported to have nephrocalcinosis.

PMID: 33033857 - Khandelwal et al 2021 - 4 patients, from three unrelated consanguineous families, with RTA and amelogenesis imperfecta. Genome analysis of 3 of the patients identified 3 different homozygous nonsense variants in WDR72. Ultrasound showed bilateral grade I medullary nephrocalcinosis in the 3 patients.
Created: 1 Mar 2023, 9:46 p.m. | Last Modified: 1 Mar 2023, 9:46 p.m.

Panel Version: 3.4

Comment on list classification: Rating this gene as amber as 2 reported families to date.
Created: 12 Feb 2019, 10:38 p.m.

No association with a renal phenotype in OMIM (only with Amelogenesis imperfecta) or Gene2Phenotype.

PMID: 30028003 (Rungroj et al 2018) report 2 families, of Thai and Indian ethnicities, with compound heterozygous and homozygous nonsense WDR72 variations respectively. Both were affected by hereditary distal renal tubular acidosis (dRTA). 3 different variants were found in WDR72; c.1777A>G:p.R593G and c.2522T>A:p.L841Q (predicted as disease causing or damaging, found as compound heterzygotes in family 1) and c.2686C>T:p.R896X. (protein truncating, homozygous in family 2). The truncating variant has been previously reported in a Pakistani family affected by hypomaturation AI, however no other clinical phenotypes in the patients were reported (PMID: 21196691).

Patients in family 1 presented with proximal muscle weakness and/or growth retardation at ages under 7 years. One member of family 1 also had nephrolithiasis and localized enamel hypoplasia. Family 2 has consanguineous parents with one affected child which presented with hypoplastic amelogenesis imperfect in addition to dRTA. She also showed nephrocalcinosis.
Created: 12 Feb 2019, 10:36 p.m. | Last Modified: 1 Mar 2023, 7:39 p.m.

Panel Version: 3.4
Sources: Expert Review
Unexplained young onset end-stage renal disease v3.29 SEC63 Achchuthan Shanmugasundram Classified gene: SEC63 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v3.29 SEC63 Achchuthan Shanmugasundram Added comment: Comment on list classification: As this gene has been tagged for promotion to green rating in 'Cystic kidney disease' panel (https://panelapp.genomicsengland.co.uk/panels/283/gene/SEC63/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.29 SEC63 Achchuthan Shanmugasundram Gene: sec63 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v3.28 SEC63 Achchuthan Shanmugasundram Phenotypes for gene: SEC63 were changed from to Polycystic liver disease 2 with or without kidney cysts, OMIM:617004
Unexplained young onset end-stage renal disease v3.27 SEC63 Achchuthan Shanmugasundram Publications for gene: SEC63 were set to
Unexplained young onset end-stage renal disease v3.26 SEC63 Achchuthan Shanmugasundram Mode of inheritance for gene: SEC63 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.25 SEC63 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SEC63.
Unexplained young onset end-stage renal disease v3.25 SEC63 Achchuthan Shanmugasundram reviewed gene: SEC63: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886261; Phenotypes: Polycystic liver disease 2 with or without kidney cysts, OMIM:617004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.25 PRKCSH Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: PRKCSH.
Unexplained young onset end-stage renal disease v3.25 PRKCSH Achchuthan Shanmugasundram Phenotypes for gene: PRKCSH were changed from to Polycystic liver disease 1 with or without kidney cysts, OMIM:174050
Unexplained young onset end-stage renal disease v3.24 PRKCSH Achchuthan Shanmugasundram Publications for gene: PRKCSH were set to
Unexplained young onset end-stage renal disease v3.23 PRKCSH Achchuthan Shanmugasundram Classified gene: PRKCSH as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v3.23 PRKCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: As this gene has been tagged for promotion to green rating in 'Cystic kidney disease' panel (https://panelapp.genomicsengland.co.uk/panels/283/gene/PRKCSH/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.23 PRKCSH Achchuthan Shanmugasundram Gene: prkcsh has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v3.22 PRKCSH Achchuthan Shanmugasundram Mode of inheritance for gene: PRKCSH was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 PRKCSH Achchuthan Shanmugasundram reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886261; Phenotypes: Polycystic liver disease 1 with or without kidney cysts, OMIM:174050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 PDSS2 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in this panel as it has already been rated green in 'Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/PDSS2/).; to: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/PDSS2/).
Unexplained young onset end-stage renal disease v3.21 CD151 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/).; to: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/).
Unexplained young onset end-stage renal disease v3.21 FN1 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/FN1/).; to: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/FN1/).
Unexplained young onset end-stage renal disease v3.21 FN1 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in this panel as it has already been rated green in 'Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/FN1/).; to: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/FN1/).
Unexplained young onset end-stage renal disease v3.21 CD151 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in this panel as it has already been rated green on 'Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/).; to: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/).
Unexplained young onset end-stage renal disease v3.21 APRT Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in this panel as it is already green on 'Nephrocalcinosis or nephrolithiasis' panel (https://panelapp.genomicsengland.co.uk/panels/149/gene/APRT/).; to: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R256 Nephrocalcinosis or nephrolithiasis' panel (https://panelapp.genomicsengland.co.uk/panels/149/gene/APRT/).
Unexplained young onset end-stage renal disease v3.21 CASR Achchuthan Shanmugasundram edited their review of gene: CASR: Changed phenotypes to: Familial Hypocalciuric Hypercalcemia, Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to,, Hypocalcemia (dominant), Familial Hypocalciuric Hypercalcemia (dominant), hypocalciuric hypercalcaemia
Unexplained young onset end-stage renal disease v3.21 YRDC Achchuthan Shanmugasundram reviewed gene: YRDC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Galloway-Mowat syndrome MONDO:0009627; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 WNK4 Achchuthan Shanmugasundram reviewed gene: WNK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type IIB, 614491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 TULP3 Achchuthan Shanmugasundram reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hepatorenocardiac degenerative fibrosis, OMIM:619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 TTR Achchuthan Shanmugasundram reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyloidosis, hereditary, transthyretin-related 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease v3.21 TRPM6 Achchuthan Shanmugasundram reviewed gene: TRPM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomagnesemia 1, intestinal, 602014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 TPRKB Achchuthan Shanmugasundram reviewed gene: TPRKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Galloway-Mowat syndrome 5, OMIM:617731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 STRADA Achchuthan Shanmugasundram reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 SLC5A2 Achchuthan Shanmugasundram reviewed gene: SLC5A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal glucosuria, 233100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 SLC4A4 Achchuthan Shanmugasundram reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, 604278, Proximal Renal Tubular Acidosis with Ocular Abnormalities, Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 SLC4A1 Achchuthan Shanmugasundram reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal tubular acidosis, distal, AD, 179800, distal renal tubular acidosis, Renal tubular acidosis, distal, AR 611590; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 SLC34A3 Achchuthan Shanmugasundram reviewed gene: SLC34A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431, Hypophosphatemic rickets with hypercalciuria, OMIM:241530, HHRH; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 SLC34A1 Achchuthan Shanmugasundram reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286, Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive), Hypophosphatemic Nephrolithiasis/Osteoporosis, Nephrolithiasis with osteoporosis and hypophosphatemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 SLC2A2 Achchuthan Shanmugasundram reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi-Bickel syndrome, OMIM:227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 SLC12A3 Achchuthan Shanmugasundram reviewed gene: SLC12A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gitelman syndrome, MONDO:0009904, Gitelman syndrome, OMIM: 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 SLC12A1 Achchuthan Shanmugasundram reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 1, OMIM:601678, Bartter disease type 1, MONDO:0100344; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 SCNN1G Achchuthan Shanmugasundram reviewed gene: SCNN1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, 264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 SCNN1B Achchuthan Shanmugasundram reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, 264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 SCNN1A Achchuthan Shanmugasundram reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, 264350, ?Liddle syndrom 3, 618126, Bronchiectasis with or without elevated sweat chloride 2 613021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 SARS2 Achchuthan Shanmugasundram reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845, Progressive Spastic Paresis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 RRAGD Achchuthan Shanmugasundram reviewed gene: RRAGD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: salt wasting, hypomagnesaemia, cardiomyopathy, nephrocalcinosis, tubular renal disease-cardiomyopathy syndrome, MONDO:0019130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 PHEX Achchuthan Shanmugasundram reviewed gene: PHEX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypophosphatemic rickets, X-linked dominant 307800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Unexplained young onset end-stage renal disease v3.21 NR3C2 Achchuthan Shanmugasundram reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, 177735, Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 no inheritance pattern; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 MOCOS Achchuthan Shanmugasundram reviewed gene: MOCOS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Xanthinuria, type II, OMIM:603592; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 MAGED2 Achchuthan Shanmugasundram reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 5, antenatal, transient, 300971; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Unexplained young onset end-stage renal disease v3.21 LYZ Achchuthan Shanmugasundram reviewed gene: LYZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyloidosis, renal 105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 LCAT Achchuthan Shanmugasundram reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Norum disease, MONDO:0009515, LCAT DEFICIENCY, Norum disease, OMIM:245900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 KLHL3 Achchuthan Shanmugasundram reviewed gene: KLHL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type IID, 614495; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 KCNJ16 Achchuthan Shanmugasundram reviewed gene: KCNJ16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypokalemic tubulopathy and deafness, OMIM:619406; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 KCNJ10 Achchuthan Shanmugasundram reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SESAME/EAST syndrome, 612780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 KCNJ1 Achchuthan Shanmugasundram reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: often initial transient hyperkalemia, Antenatal Bartter Syndrome, Type 2 Bartter syndrome, Bartter syndrome, type 2, 241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 IFT27 Achchuthan Shanmugasundram reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Bardet-Biedl syndrome 19, OMIM:615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 IFT172 Achchuthan Shanmugasundram reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 IFT140 Achchuthan Shanmugasundram reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964, cystic kidney disease, MONDO:0002473, Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 HPRT1 Achchuthan Shanmugasundram reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lesch-Nyhan syndrome, OMIM:300322, Hyperuricemia, HRPT-related, OMIM:300323; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Unexplained young onset end-stage renal disease v3.21 HNF4A Achchuthan Shanmugasundram reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease v3.21 GSN Achchuthan Shanmugasundram reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyloidosis, Finnish type, OMIM:105120; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 GON7 Achchuthan Shanmugasundram reviewed gene: GON7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Galloway-Mowat syndrome MONDO:0009627; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 GNA11 Achchuthan Shanmugasundram reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypocalcemia, autosomal dominant 2 615361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 FLCN Achchuthan Shanmugasundram reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: renal cell carcinoma, Birt-Hogg-Dube syndrome, OMIM:135150, renal oncocytoma, pneumothorax, renal cysts, cutaneous fibrofolliculoma, pulmonary cysts; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 FGA Achchuthan Shanmugasundram reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyloidosis, familial visceral, OMIM:105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 FAM20A Achchuthan Shanmugasundram reviewed gene: FAM20A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 FAH Achchuthan Shanmugasundram reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Tyrosinemia, type I, OMIM:276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 DLG5 Achchuthan Shanmugasundram reviewed gene: DLG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: DLG5-associated developmental disorder (biallelic), DLG5-associated developmental disorder (monoallelic); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 DAAM2 Achchuthan Shanmugasundram reviewed gene: DAAM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: steroid-resistant nephrotic syndrome MONDO:0044765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 CYP24A1 Achchuthan Shanmugasundram reviewed gene: CYP24A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile hypercalcaemia, Hypercalcemia, infantile, 143880, Infantile Hypercalcemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 CUL3 Achchuthan Shanmugasundram reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pseudohypoaldosteronism, type IIE, 214496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 CNNM2 Achchuthan Shanmugasundram reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: renal hypomagnesemia 6, MONDO:0013480, Hypomagnesemia, seizures, and mental retardation, MONDO:0014631, Hypomagnesemia 6, renal, OMIM:613882, Hypomagnesemia, seizures, and mental retardation, OMIM:616418; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 CLDN19 Achchuthan Shanmugasundram reviewed gene: CLDN19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomagnesemia 5, renal, with ocular involvement, hypomagensemia with nephrocalcinosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 CLDN16 Achchuthan Shanmugasundram reviewed gene: CLDN16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomagnesemia 3, renal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 CLDN10 Achchuthan Shanmugasundram reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypokalemic-alkalotic salt-losing tubulopathy, HELIX syndrome, OMIM:617671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 CLCNKB Achchuthan Shanmugasundram reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter disease type 4B, MONDO:0000909, Bartter syndrome, type 4b, digenic, OMIM:613090, Bartter syndrome, type 3, OMIM:607364, Bartter disease type 3, MONDO:0011822; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 CFHR2 Achchuthan Shanmugasundram reviewed gene: CFHR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: C3 glomerulopathy, Immune complex MPGN, Immune-complex-mediated MPGN, IC-MPGN, C3G; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 CASR Achchuthan Shanmugasundram reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Hypocalciuric Hypercalcemia, Hypocalcemia (dominant), hypocalciuric hypercalcaemia, Familial Hypocalciuric Hypercalcemia (dominant), Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to,; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 CA2 Achchuthan Shanmugasundram reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 AVPR2 Achchuthan Shanmugasundram reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539, Diabetes insipidus, nephrogenic, OMIM:304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Unexplained young onset end-stage renal disease v3.21 ATP6V1B1 Achchuthan Shanmugasundram reviewed gene: ATP6V1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: distal renal tubular acidosis, Renal tubular acidosis with deafness 267300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 ATP6V0A4 Achchuthan Shanmugasundram reviewed gene: ATP6V0A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 ATP1A1 Achchuthan Shanmugasundram reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomagnesemia, seizures, and mental retardation 2 618314, Charcot-Marie-Tooth disease, axonal, type 2DD, 618036; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 AQP2 Achchuthan Shanmugasundram reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, 125800, Nephrogenic diabetes insipidus; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 APOE Achchuthan Shanmugasundram reviewed gene: APOE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Lipoprotein glomerulopathy, OMIM:611771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 APOC2 Achchuthan Shanmugasundram reviewed gene: APOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 APOA2 Achchuthan Shanmugasundram reviewed gene: APOA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 APOA1 Achchuthan Shanmugasundram reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyloidosis, 3 or more types OMIM:105200, familial visceral amyloidosis MONDO:0007099; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 AP2S1 Achchuthan Shanmugasundram reviewed gene: AP2S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial hypocalciuric hypercalcemia type III 600740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.21 ALG9 Achchuthan Shanmugasundram reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: cystic liver disease, cystic kidney disease, Gillessen-Kaesbach-Nishimura syndrome, 263210; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.21 ALG8 Achchuthan Shanmugasundram reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: cystic liver disease, Polycystic liver disease 3 with or without kidney cysts, 617874, cystic kidney disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease v3.21 ALG5 Achchuthan Shanmugasundram reviewed gene: ALG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Polycystic kidney disease 7, OMIM:620056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease v3.20 FAH Achchuthan Shanmugasundram Phenotypes for gene: FAH were changed from Tyrosinemia, type I,OMIM:276700 to Tyrosinemia, type I, OMIM:276700
Unexplained young onset end-stage renal disease v3.19 FAH Achchuthan Shanmugasundram Phenotypes for gene: FAH were changed from Tyrosinemia, type I to Tyrosinemia, type I,OMIM:276700
Unexplained young onset end-stage renal disease v3.18 WNK4 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: WNK4.
Unexplained young onset end-stage renal disease v3.18 YRDC Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: YRDC.
Unexplained young onset end-stage renal disease v3.18 TTR Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: TTR.
Unexplained young onset end-stage renal disease v3.18 TULP3 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: TULP3.
Unexplained young onset end-stage renal disease v3.18 TRPM6 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: TRPM6.
Unexplained young onset end-stage renal disease v3.18 TPRKB Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: TPRKB.
Unexplained young onset end-stage renal disease v3.18 STRADA Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: STRADA.
Unexplained young onset end-stage renal disease v3.18 SLC5A2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC5A2.
Unexplained young onset end-stage renal disease v3.18 SLC4A4 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC4A4.
Unexplained young onset end-stage renal disease v3.18 SLC4A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC4A1.
Unexplained young onset end-stage renal disease v3.18 SLC34A3 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC34A3.
Unexplained young onset end-stage renal disease v3.18 SLC34A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC34A1.
Unexplained young onset end-stage renal disease v3.18 SLC2A2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC2A2.
Unexplained young onset end-stage renal disease v3.18 SLC12A3 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC12A3.
Unexplained young onset end-stage renal disease v3.18 SLC12A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SLC12A1.
Unexplained young onset end-stage renal disease v3.18 SCNN1G Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SCNN1G.
Unexplained young onset end-stage renal disease v3.18 SCNN1B Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SCNN1B.
Unexplained young onset end-stage renal disease v3.18 SCNN1A Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SCNN1A.
Unexplained young onset end-stage renal disease v3.18 SARS2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: SARS2.
Unexplained young onset end-stage renal disease v3.18 RRAGD Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: RRAGD.
Unexplained young onset end-stage renal disease v3.18 PHEX Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: PHEX.
Unexplained young onset end-stage renal disease v3.18 NR3C2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: NR3C2.
Unexplained young onset end-stage renal disease v3.18 MOCOS Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: MOCOS.
Unexplained young onset end-stage renal disease v3.18 MAGED2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: MAGED2.
Unexplained young onset end-stage renal disease v3.18 LYZ Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: LYZ.
Unexplained young onset end-stage renal disease v3.18 LCAT Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: LCAT.
Unexplained young onset end-stage renal disease v3.18 KLHL3 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: KLHL3.
Unexplained young onset end-stage renal disease v3.18 KCNJ16 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: KCNJ16.
Unexplained young onset end-stage renal disease v3.18 KCNJ10 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: KCNJ10.
Unexplained young onset end-stage renal disease v3.18 KCNJ1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: KCNJ1.
Unexplained young onset end-stage renal disease v3.18 IFT27 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: IFT27.
Unexplained young onset end-stage renal disease v3.18 IFT172 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: IFT172.
Unexplained young onset end-stage renal disease v3.18 IFT140 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: IFT140.
Unexplained young onset end-stage renal disease v3.18 HPRT1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HPRT1.
Unexplained young onset end-stage renal disease v3.18 HNF4A Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: HNF4A.
Unexplained young onset end-stage renal disease v3.18 GSN Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: GSN.
Unexplained young onset end-stage renal disease v3.18 GON7 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: GON7.
Unexplained young onset end-stage renal disease v3.18 GNA11 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: GNA11.
Unexplained young onset end-stage renal disease v3.18 FLCN Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: FLCN.
Unexplained young onset end-stage renal disease v3.18 FGA Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: FGA.
Unexplained young onset end-stage renal disease v3.18 FAM20A Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: FAM20A.
Unexplained young onset end-stage renal disease v3.18 FAH Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: FAH.
Unexplained young onset end-stage renal disease v3.18 DLG5 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: DLG5.
Unexplained young onset end-stage renal disease v3.18 DAAM2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: DAAM2.
Unexplained young onset end-stage renal disease v3.18 CYP24A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CYP24A1.
Unexplained young onset end-stage renal disease v3.18 CUL3 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CUL3.
Unexplained young onset end-stage renal disease v3.18 CNNM2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CNNM2.
Unexplained young onset end-stage renal disease v3.18 CLDN19 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CLDN19.
Unexplained young onset end-stage renal disease v3.18 CLDN16 Achchuthan Shanmugasundram Phenotypes for gene: CLDN16 were changed from Hypomagnesemia 3, renal 248250; Hypomagnesemia 3, renal to Hypomagnesemia 3, renal, OMIM: 248250
Unexplained young onset end-stage renal disease v3.17 CLDN16 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CLDN16.
Unexplained young onset end-stage renal disease v3.17 CLDN10 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CLDN10.
Unexplained young onset end-stage renal disease v3.17 CLCNKB Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CLCNKB.
Unexplained young onset end-stage renal disease v3.17 CFHR2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CFHR2.
Unexplained young onset end-stage renal disease v3.17 CA2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CA2.
Unexplained young onset end-stage renal disease v3.17 CASR Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CASR.
Unexplained young onset end-stage renal disease v3.17 AVPR2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: AVPR2.
Unexplained young onset end-stage renal disease v3.17 ATP6V1B1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ATP6V1B1.
Unexplained young onset end-stage renal disease v3.17 ATP6V0A4 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ATP6V0A4.
Unexplained young onset end-stage renal disease v3.17 ATP1A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ATP1A1.
Unexplained young onset end-stage renal disease v3.17 APOE Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: APOE.
Unexplained young onset end-stage renal disease v3.17 APOC2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: APOC2.
Unexplained young onset end-stage renal disease v3.17 APOA2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: APOA2.
Unexplained young onset end-stage renal disease v3.17 APOA1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: APOA1.
Unexplained young onset end-stage renal disease v3.17 AP2S1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: AP2S1.
Unexplained young onset end-stage renal disease v3.17 ALG9 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ALG9.
Unexplained young onset end-stage renal disease v3.17 ALG8 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ALG8.
Unexplained young onset end-stage renal disease v3.17 ALG5 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ALG5.
Unexplained young onset end-stage renal disease v3.17 YRDC Achchuthan Shanmugasundram gene: YRDC was added
gene: YRDC was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YRDC were set to Galloway-Mowat syndrome MONDO:0009627
Unexplained young onset end-stage renal disease v3.17 WNK4 Achchuthan Shanmugasundram gene: WNK4 was added
gene: WNK4 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: WNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNK4 were set to Pseudohypoaldosteronism, type IIB, 614491
Unexplained young onset end-stage renal disease v3.17 TULP3 Achchuthan Shanmugasundram gene: TULP3 was added
gene: TULP3 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TULP3 were set to Hepatorenocardiac degenerative fibrosis, OMIM:619902
Unexplained young onset end-stage renal disease v3.17 TTR Achchuthan Shanmugasundram gene: TTR was added
gene: TTR was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related 105210
Unexplained young onset end-stage renal disease v3.17 TRPM6 Achchuthan Shanmugasundram gene: TRPM6 was added
gene: TRPM6 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, 602014
Unexplained young onset end-stage renal disease v3.17 TPRKB Achchuthan Shanmugasundram gene: TPRKB was added
gene: TPRKB was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPRKB were set to Galloway-Mowat syndrome 5, OMIM:617731
Unexplained young onset end-stage renal disease v3.17 STRADA Achchuthan Shanmugasundram gene: STRADA was added
gene: STRADA was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087
Unexplained young onset end-stage renal disease v3.17 SLC5A2 Achchuthan Shanmugasundram gene: SLC5A2 was added
gene: SLC5A2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SLC5A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A2 were set to Renal glucosuria, 233100
Unexplained young onset end-stage renal disease v3.17 SLC4A4 Achchuthan Shanmugasundram gene: SLC4A4 was added
gene: SLC4A4 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278; Proximal Renal Tubular Acidosis with Ocular Abnormalities; Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive).
Unexplained young onset end-stage renal disease v3.17 SLC4A1 Achchuthan Shanmugasundram gene: SLC4A1 was added
gene: SLC4A1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR 611590; distal renal tubular acidosis; Renal tubular acidosis, distal, AD, 179800
Unexplained young onset end-stage renal disease v3.17 SLC34A3 Achchuthan Shanmugasundram gene: SLC34A3 was added
gene: SLC34A3 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SLC34A3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431; HHRH; Hypophosphatemic rickets with hypercalciuria, OMIM:241530
Unexplained young onset end-stage renal disease v3.17 SLC34A1 Achchuthan Shanmugasundram gene: SLC34A1 was added
gene: SLC34A1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SLC34A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A1 were set to Nephrolithiasis with osteoporosis and hypophosphatemia; Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive); Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286; Hypophosphatemic Nephrolithiasis/Osteoporosis
Unexplained young onset end-stage renal disease v3.17 SLC2A2 Achchuthan Shanmugasundram gene: SLC2A2 was added
gene: SLC2A2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, OMIM:227810
Unexplained young onset end-stage renal disease v3.17 SLC12A3 Achchuthan Shanmugasundram gene: SLC12A3 was added
gene: SLC12A3 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A3 were set to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904
Unexplained young onset end-stage renal disease v3.17 SLC12A1 Achchuthan Shanmugasundram gene: SLC12A1 was added
gene: SLC12A1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, OMIM:601678; Bartter disease type 1, MONDO:0100344
Unexplained young onset end-stage renal disease v3.17 SCNN1G Achchuthan Shanmugasundram gene: SCNN1G was added
gene: SCNN1G was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCNN1G was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I, 264350
Unexplained young onset end-stage renal disease v3.17 SCNN1B Achchuthan Shanmugasundram gene: SCNN1B was added
gene: SCNN1B was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCNN1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, 264350
Unexplained young onset end-stage renal disease v3.17 SCNN1A Achchuthan Shanmugasundram gene: SCNN1A was added
gene: SCNN1A was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrom 3, 618126; Bronchiectasis with or without elevated sweat chloride 2 613021
Unexplained young onset end-stage renal disease v3.17 SARS2 Achchuthan Shanmugasundram gene: SARS2 was added
gene: SARS2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SARS2 were set to Progressive Spastic Paresis; Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845
Unexplained young onset end-stage renal disease v3.17 RRAGD Achchuthan Shanmugasundram gene: RRAGD was added
gene: RRAGD was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RRAGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RRAGD were set to salt wasting; tubular renal disease-cardiomyopathy syndrome, MONDO:0019130; cardiomyopathy; hypomagnesaemia; nephrocalcinosis
Mode of pathogenicity for gene: RRAGD was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Unexplained young onset end-stage renal disease v3.17 PHEX Achchuthan Shanmugasundram gene: PHEX was added
gene: PHEX was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PHEX 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: PHEX were set to Hypophosphatemic rickets, X-linked dominant 307800
Unexplained young onset end-stage renal disease v3.17 NR3C2 Achchuthan Shanmugasundram gene: NR3C2 was added
gene: NR3C2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NR3C2 were set to Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 no inheritance pattern; Pseudohypoaldosteronism type I, autosomal dominant, 177735
Unexplained young onset end-stage renal disease v3.17 MOCOS Achchuthan Shanmugasundram gene: MOCOS was added
gene: MOCOS was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MOCOS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCOS were set to Xanthinuria, type II, OMIM:603592
Unexplained young onset end-stage renal disease v3.17 MAGED2 Achchuthan Shanmugasundram gene: MAGED2 was added
gene: MAGED2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAGED2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAGED2 were set to Bartter syndrome, type 5, antenatal, transient, 300971
Unexplained young onset end-stage renal disease v3.17 LYZ Achchuthan Shanmugasundram gene: LYZ was added
gene: LYZ was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: LYZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LYZ were set to Amyloidosis, renal 105200
Unexplained young onset end-stage renal disease v3.17 LCAT Achchuthan Shanmugasundram gene: LCAT was added
gene: LCAT was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCAT were set to Norum disease, OMIM:245900; Norum disease, MONDO:0009515; LCAT DEFICIENCY
Unexplained young onset end-stage renal disease v3.17 KLHL3 Achchuthan Shanmugasundram gene: KLHL3 was added
gene: KLHL3 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KLHL3 were set to Pseudohypoaldosteronism, type IID, 614495
Unexplained young onset end-stage renal disease v3.17 KCNJ16 Achchuthan Shanmugasundram gene: KCNJ16 was added
gene: KCNJ16 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ16 were set to Hypokalemic tubulopathy and deafness, OMIM:619406
Unexplained young onset end-stage renal disease v3.17 KCNJ10 Achchuthan Shanmugasundram gene: KCNJ10 was added
gene: KCNJ10 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to SESAME/EAST syndrome, 612780
Unexplained young onset end-stage renal disease v3.17 KCNJ1 Achchuthan Shanmugasundram gene: KCNJ1 was added
gene: KCNJ1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to often initial transient hyperkalemia; Antenatal Bartter Syndrome; Bartter syndrome, type 2, 241200; Type 2 Bartter syndrome
Unexplained young onset end-stage renal disease v3.17 IFT27 Achchuthan Shanmugasundram gene: IFT27 was added
gene: IFT27 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT27 were set to ?Bardet-Biedl syndrome 19, OMIM:615996
Unexplained young onset end-stage renal disease v3.17 IFT172 Achchuthan Shanmugasundram gene: IFT172 was added
gene: IFT172 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
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, OMIM:615630
Unexplained young onset end-stage renal disease v3.17 IFT140 Achchuthan Shanmugasundram gene: IFT140 was added
gene: IFT140 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IFT140 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920; cystic kidney disease, MONDO:0002473; short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964
Unexplained young onset end-stage renal disease v3.17 HPRT1 Achchuthan Shanmugasundram gene: HPRT1 was added
gene: HPRT1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome, OMIM:300322; Hyperuricemia, HRPT-related, OMIM:300323
Unexplained young onset end-stage renal disease v3.17 HNF4A Achchuthan Shanmugasundram gene: HNF4A was added
gene: HNF4A was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Unexplained young onset end-stage renal disease v3.17 GSN Achchuthan Shanmugasundram gene: GSN was added
gene: GSN was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GSN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type, OMIM:105120
Unexplained young onset end-stage renal disease v3.17 GON7 Achchuthan Shanmugasundram gene: GON7 was added
gene: GON7 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GON7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GON7 were set to Galloway-Mowat syndrome MONDO:0009627
Unexplained young onset end-stage renal disease v3.17 GNA11 Achchuthan Shanmugasundram gene: GNA11 was added
gene: GNA11 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNA11 were set to Hypocalcemia, autosomal dominant 2 615361
Unexplained young onset end-stage renal disease v3.17 FLCN Achchuthan Shanmugasundram gene: FLCN was added
gene: FLCN was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome, OMIM:135150; renal cell carcinoma; renal cysts; pneumothorax; renal oncocytoma; pulmonary cysts; cutaneous fibrofolliculoma
Unexplained young onset end-stage renal disease v3.17 FGA Achchuthan Shanmugasundram gene: FGA was added
gene: FGA was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGA were set to Amyloidosis, familial visceral, OMIM:105200
Unexplained young onset end-stage renal disease v3.17 FAM20A Achchuthan Shanmugasundram gene: FAM20A was added
gene: FAM20A was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20A were set to Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690
Unexplained young onset end-stage renal disease v3.17 FAH Achchuthan Shanmugasundram gene: FAH was added
gene: FAH was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I
Unexplained young onset end-stage renal disease v3.17 DLG5 Achchuthan Shanmugasundram gene: DLG5 was added
gene: DLG5 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DLG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: DLG5 were set to DLG5-associated developmental disorder (monoallelic); DLG5-associated developmental disorder (biallelic)
Unexplained young onset end-stage renal disease v3.17 DAAM2 Achchuthan Shanmugasundram gene: DAAM2 was added
gene: DAAM2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DAAM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAAM2 were set to steroid-resistant nephrotic syndrome MONDO:0044765
Unexplained young onset end-stage renal disease v3.17 CYP24A1 Achchuthan Shanmugasundram gene: CYP24A1 was added
gene: CYP24A1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP24A1 were set to Infantile hypercalcaemia; Infantile Hypercalcemia; Hypercalcemia, infantile, 143880
Unexplained young onset end-stage renal disease v3.17 CUL3 Achchuthan Shanmugasundram gene: CUL3 was added
gene: CUL3 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CUL3 were set to Pseudohypoaldosteronism, type IIE, 214496
Unexplained young onset end-stage renal disease v3.17 CNNM2 Achchuthan Shanmugasundram gene: CNNM2 was added
gene: CNNM2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: CNNM2 were set to Hypomagnesemia, seizures, and mental retardation, OMIM:616418; renal hypomagnesemia 6, MONDO:0013480; Hypomagnesemia, seizures, and mental retardation, MONDO:0014631; Hypomagnesemia 6, renal, OMIM:613882
Mode of pathogenicity for gene: CNNM2 was set to Other
Unexplained young onset end-stage renal disease v3.17 CLDN19 Achchuthan Shanmugasundram gene: CLDN19 was added
gene: CLDN19 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to hypomagensemia with nephrocalcinosis; Hypomagnesemia 5, renal, with ocular involvement
Unexplained young onset end-stage renal disease v3.17 CLDN16 Achchuthan Shanmugasundram Added phenotypes Hypomagnesemia 3, renal 248250 for gene: CLDN16
Unexplained young onset end-stage renal disease v3.17 CLDN16 Achchuthan Shanmugasundram gene: CLDN16 was added
gene: CLDN16 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN16 were set to Hypomagnesemia 3, renal
Unexplained young onset end-stage renal disease v3.17 CLDN10 Achchuthan Shanmugasundram gene: CLDN10 was added
gene: CLDN10 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN10 were set to HELIX syndrome, OMIM:617671; Hypokalemic-alkalotic salt-losing tubulopathy
Unexplained young onset end-stage renal disease v3.17 CLCNKB Achchuthan Shanmugasundram gene: CLCNKB was added
gene: CLCNKB was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CLCNKB was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 3, MONDO:0011822; Bartter disease type 4B, MONDO:0000909; Bartter syndrome, type 3, OMIM:607364
Unexplained young onset end-stage renal disease v3.17 CFHR2 Achchuthan Shanmugasundram gene: CFHR2 was added
gene: CFHR2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CFHR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CFHR2 were set to Immune complex MPGN; IC-MPGN; C3 glomerulopathy; C3G; Immune-complex-mediated MPGN
Unexplained young onset end-stage renal disease v3.17 CASR Achchuthan Shanmugasundram gene: CASR was added
gene: CASR was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hypocalcemia (dominant); Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to,; Familial Hypocalciuric Hypercalcemia (dominant); hypocalciuric hypercalcaemia; Familial Hypocalciuric Hypercalcemia
Mode of pathogenicity for gene: CASR was set to Other
Unexplained young onset end-stage renal disease v3.17 CA2 Achchuthan Shanmugasundram gene: CA2 was added
gene: CA2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
Unexplained young onset end-stage renal disease v3.17 AVPR2 Achchuthan Shanmugasundram gene: AVPR2 was added
gene: AVPR2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: AVPR2 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: AVPR2 were set to Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539; Diabetes insipidus, nephrogenic, OMIM:304800
Mode of pathogenicity for gene: AVPR2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Unexplained young onset end-stage renal disease v3.17 ATP6V1B1 Achchuthan Shanmugasundram gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis with deafness 267300; distal renal tubular acidosis
Unexplained young onset end-stage renal disease v3.17 ATP6V0A4 Achchuthan Shanmugasundram gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A4 were set to Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722
Unexplained young onset end-stage renal disease v3.17 ATP1A1 Achchuthan Shanmugasundram gene: ATP1A1 was added
gene: ATP1A1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A1 were set to Hypomagnesemia, seizures, and mental retardation 2 618314; Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Unexplained young onset end-stage renal disease v3.17 AQP2 Achchuthan Shanmugasundram gene: AQP2 was added
gene: AQP2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AQP2 were set to Nephrogenic diabetes insipidus; Diabetes insipidus, nephrogenic, 125800
Unexplained young onset end-stage renal disease v3.17 APOE Achchuthan Shanmugasundram gene: APOE was added
gene: APOE was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: APOE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APOE were set to Lipoprotein glomerulopathy, OMIM:611771
Unexplained young onset end-stage renal disease v3.17 APOC2 Achchuthan Shanmugasundram gene: APOC2 was added
gene: APOC2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: APOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.17 APOA2 Achchuthan Shanmugasundram gene: APOA2 was added
gene: APOA2 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: APOA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.17 APOA1 Achchuthan Shanmugasundram gene: APOA1 was added
gene: APOA1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APOA1 were set to Amyloidosis, 3 or more types OMIM:105200; familial visceral amyloidosis MONDO:0007099
Unexplained young onset end-stage renal disease v3.17 AP2S1 Achchuthan Shanmugasundram gene: AP2S1 was added
gene: AP2S1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AP2S1 were set to Familial hypocalciuric hypercalcemia type III 600740
Unexplained young onset end-stage renal disease v3.17 ALG9 Achchuthan Shanmugasundram gene: ALG9 was added
gene: ALG9 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALG9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: ALG9 were set to cystic liver disease; cystic kidney disease; Gillessen-Kaesbach-Nishimura syndrome, 263210
Unexplained young onset end-stage renal disease v3.17 ALG8 Achchuthan Shanmugasundram gene: ALG8 was added
gene: ALG8 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ALG8 were set to cystic liver disease; cystic kidney disease; Polycystic liver disease 3 with or without kidney cysts, 617874
Unexplained young onset end-stage renal disease v3.17 ALG5 Achchuthan Shanmugasundram gene: ALG5 was added
gene: ALG5 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALG5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ALG5 were set to Polycystic kidney disease 7, OMIM:620056
Unexplained young onset end-stage renal disease v3.16 FN1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: FN1.
Unexplained young onset end-stage renal disease v3.16 PDSS2 Achchuthan Shanmugasundram Classified gene: PDSS2 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v3.16 PDSS2 Achchuthan Shanmugasundram Gene: pdss2 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v3.15 PDSS2 Achchuthan Shanmugasundram Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3, OMIM:614652; Leigh syndrome, MONDO:0009723
Unexplained young onset end-stage renal disease v3.14 PDSS2 Achchuthan Shanmugasundram Mode of inheritance for gene: PDSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.13 PDSS2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: PDSS2.
Unexplained young onset end-stage renal disease v3.13 PDSS2 Achchuthan Shanmugasundram reviewed gene: PDSS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 3, OMIM:614652, Leigh syndrome, MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.13 FN1 Achchuthan Shanmugasundram reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glomerulopathy with fibronectin deposits 2, OMIM:601894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.13 CD151 Achchuthan Shanmugasundram Phenotypes for gene: CD151 were changed from Nephropathy with pretibial epidermolysis bullosa and deafness 609057 to Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057
Unexplained young onset end-stage renal disease v3.12 CD151 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CD151.
Unexplained young onset end-stage renal disease v3.12 CD151 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in this panel as it has already been rated green on 'Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/); to: This gene should be promoted to green rating in this panel as it has already been rated green on 'Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/).
Unexplained young onset end-stage renal disease v3.12 CD151 Achchuthan Shanmugasundram reviewed gene: CD151: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.12 APRT Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: APRT.
Unexplained young onset end-stage renal disease v3.12 APRT Achchuthan Shanmugasundram Phenotypes for gene: APRT were changed from interstitial nephritis; chronic kidney disease; end stage renal disease; nephrolithiaisis; Adenine phosphoribosyltransferase deficiency 614723 to Adenine phosphoribosyltransferase deficiency, OMIM:614723
Unexplained young onset end-stage renal disease v3.11 APRT Achchuthan Shanmugasundram reviewed gene: APRT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenine phosphoribosyltransferase deficiency, OMIM:614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v3.9 RET Sarah Leigh Deleted their comment
Unexplained young onset end-stage renal disease v3.9 RET Achchuthan Shanmugasundram Tag Q2_23_MOI was removed from gene: RET.
Unexplained young onset end-stage renal disease v3.9 RET Achchuthan Shanmugasundram Deleted their comment
Unexplained young onset end-stage renal disease v3.9 RET Achchuthan Shanmugasundram commented on gene: RET: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Unexplained young onset end-stage renal disease v3.8 RET Sarah Leigh commented on gene: RET: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Unexplained young onset end-stage renal disease v3.7 RET Sarah Leigh edited their review of gene: RET: Added comment: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.6 RET Achchuthan Shanmugasundram changed review comment from: Comment on MOI: Renal agenesis (MIM #191830) is caused by biallelic variants in ITGA8 rather than by biallelic RET variants as suggested in the reviews below. OMIM clearly associates renal agenesis with ITGA8. Biallelic variants in RET has only been associated with renal agenesis in Gene2Phenotype with 'limited' rating, which requires clinical review/. This association was based on OMIM entry and do not have any associated publications. In addition, all other renal related conditions are monoallelic. Hence the MOI should be changed to monoallelic.; to: Comment on MOI: Renal agenesis (MIM #191830) is caused by biallelic variants in ITGA8 rather than by biallelic RET variants as suggested in the reviews below. OMIM clearly associates renal agenesis with ITGA8. Biallelic variants in RET has only been associated with renal agenesis in Gene2Phenotype with 'limited' rating, which requires clinical review. This association was based on OMIM entry and do not have any associated publications. In addition, all other renal related conditions are monoallelic. Hence the MOI should be changed to monoallelic.
Unexplained young onset end-stage renal disease v3.6 RET Achchuthan Shanmugasundram Source NHS GMS was added to RET.
Mode of inheritance for gene RET was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.5 FN1 Eleanor Williams Classified gene: FN1 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v3.5 FN1 Eleanor Williams Added comment: Comment on list classification: Copied this gene from the Proteinuric renal disease panel and added it to the Unexplained young onset end-stage renal disease panel. Changing it to Amber for now, until it has been completely reviewed for suitability for this panel and until the next GMS update review.
Unexplained young onset end-stage renal disease v3.5 FN1 Eleanor Williams Gene: fn1 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v3.4 FN1 Eleanor Williams Entity copied from Proteinuric renal disease v4.1
Unexplained young onset end-stage renal disease v3.4 FN1 Eleanor Williams gene: FN1 was added
gene: FN1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FN1 were set to 18268355; 27056061; 31419955
Phenotypes for gene: FN1 were set to Glomerulopathy with fibronectin deposits 2, OMIM:601894
Unexplained young onset end-stage renal disease v3.3 FAN1 Eleanor Williams Phenotypes for gene: FAN1 were changed from interstitial nephritis; chronic kidney disease; Interstitial nephritis, karyomegalic 614817 to interstitial nephritis; chronic kidney disease; Interstitial nephritis, karyomegalic, OMIM:614817; karyomegalic interstitial nephritis, MONDO:0013898
Unexplained young onset end-stage renal disease v3.2 FAN1 Eleanor Williams Publications for gene: FAN1 were set to 22772369
Unexplained young onset end-stage renal disease v3.1 FAN1 Eleanor Williams commented on gene: FAN1: Mouse model data added by reviewer Yu Leng Phua provides functional data to support this gene-disease association from PMID: 35931300 Airik et al 2022.
Unexplained young onset end-stage renal disease v3.1 RET Achchuthan Shanmugasundram Tag Q2_23_MOI tag was added to gene: RET.
Unexplained young onset end-stage renal disease v3.1 RET Achchuthan Shanmugasundram reviewed gene: RET: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Unexplained young onset end-stage renal disease v3.1 Catherine Snow Panel version 3.0 has been signed off on 2023-03-22
Unexplained young onset end-stage renal disease v3.0 Catherine Snow promoted panel to version 3.0
Unexplained young onset end-stage renal disease v2.7 Achchuthan Shanmugasundram Panel name changed from Unexplained paediatric onset end-stage renal disease to Unexplained young onset end-stage renal disease
List of related panels changed from R257 to Unexplained paediatric onset end-stage renal disease; R257
Unexplained young onset end-stage renal disease v2.6 XPNPEP3 Sarah Leigh Tag Q1_22_rating was removed from gene: XPNPEP3.
Unexplained young onset end-stage renal disease v2.6 EMP2 Sarah Leigh Tag Q2_22_rating was removed from gene: EMP2.
Unexplained young onset end-stage renal disease v2.6 CFI Sarah Leigh Tag Q2_22_MOI was removed from gene: CFI.
Unexplained young onset end-stage renal disease v2.6 TTC21B Sarah Leigh Tag Q3_22_MOI was removed from gene: TTC21B.
Tag Q3_22_expert_review was removed from gene: TTC21B.
Unexplained young onset end-stage renal disease v2.6 CHRM3 Sarah Leigh Tag Q3_22_rating was removed from gene: CHRM3.
Unexplained young onset end-stage renal disease v2.6 XPNPEP3 Sarah Leigh commented on gene: XPNPEP3: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Unexplained young onset end-stage renal disease v2.6 EMP2 Sarah Leigh reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v2.6 CFI Sarah Leigh commented on gene: CFI: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Unexplained young onset end-stage renal disease v2.6 TTC21B Sarah Leigh commented on gene: TTC21B: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Unexplained young onset end-stage renal disease v2.6 CHRM3 Sarah Leigh reviewed gene: CHRM3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v2.5 XPNPEP3 Sarah Leigh Source Expert Review Green was added to XPNPEP3.
Source NHS GMS was added to XPNPEP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v2.5 TTC21B Sarah Leigh Source NHS GMS was added to TTC21B.
Mode of inheritance for gene TTC21B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v2.5 EMP2 Sarah Leigh Source Expert Review Amber was added to EMP2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v2.5 CHRM3 Sarah Leigh Source Expert Review Green was added to CHRM3.
Source NHS GMS was added to CHRM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v2.5 CFI Sarah Leigh Source NHS GMS was added to CFI.
Mode of inheritance for gene CFI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v2.4 COX10 Arina Puzriakova Phenotypes for gene: COX10 were changed from Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046; Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency
Unexplained young onset end-stage renal disease v2.3 NPHP1 Achchuthan Shanmugasundram Publications for gene: NPHP1 were set to 266900; 34415307
Unexplained young onset end-stage renal disease v2.2 NPHP1 Achchuthan Shanmugasundram Publications for gene: NPHP1 were set to 266900
Unexplained young onset end-stage renal disease v2.1 NPHP1 Achchuthan Shanmugasundram reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34415307; Phenotypes: ; Mode of inheritance: None
Unexplained young onset end-stage renal disease v2.1 FAN1 Yu Leng Phua reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35931300; Phenotypes: interstitial nephritis, chronic kidney disease, Interstitial nephritis, karyomegalic 614817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2022-11-30
Unexplained young onset end-stage renal disease v2.0 Arina Puzriakova promoted panel to version 2.0
Unexplained young onset end-stage renal disease v1.42 GATM Arina Puzriakova Phenotypes for gene: GATM were changed from Renal fanconi syndrome and kidney failure to Fanconi renotubular syndrome 1, OMIM:134600
Unexplained young onset end-stage renal disease v1.41 TTC21B Eleanor Williams Tag Q3_22_expert_review tag was added to gene: TTC21B.
Unexplained young onset end-stage renal disease v1.41 TTC21B Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the mode of inheritance as Both mono and biallelic for now. It does appear that monoallelic variants are potential genetic modifiers and are found in combination with variants in other renal disease associated genes (see PMID: 26940125, PMID: 21258341) so seeking GMS review as to the best mode of inheritance.
Unexplained young onset end-stage renal disease v1.41 TTC21B Eleanor Williams Mode of inheritance for gene: TTC21B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v1.40 TTC21B Eleanor Williams Tag Q3_22_MOI tag was added to gene: TTC21B.
Unexplained young onset end-stage renal disease v1.40 CHRM3 Arina Puzriakova Classified gene: CHRM3 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v1.40 CHRM3 Arina Puzriakova Added comment: Comment on list classification: Two unrelated families with urinary bladder disease (PMIDs: 22077972; 31441039) have now been published (including the one previously reviewed by Adrian Woolf in 2016), and given that the null mutant mouse model recapitulates the human phenotype (PMID: 10944224), this gene can now be promoted to Green status at the next GMS review.
Unexplained young onset end-stage renal disease v1.40 CHRM3 Arina Puzriakova Gene: chrm3 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v1.39 CHRM3 Arina Puzriakova Tag Q3_22_rating tag was added to gene: CHRM3.
Unexplained young onset end-stage renal disease v1.39 CHRM3 Arina Puzriakova Phenotypes for gene: CHRM3 were changed from Low pressure congenital megabladder; Prune Belly-Like Syndrome to Prune belly syndrome, OMIM:100100; Megacystis; Urinary Bladder Disease
Unexplained young onset end-stage renal disease v1.38 CHRM3 Arina Puzriakova Publications for gene: CHRM3 were set to Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altm ller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann K-P, Beetz R, Hoyer PF, Konrad M, Schaefer F, N rnberg P, Woolf AS. Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome. Am J Hum Genet 89:668-674, 2011.
Unexplained young onset end-stage renal disease v1.37 EMP2 Eleanor Williams Classified gene: EMP2 as Green List (high evidence)
Unexplained young onset end-stage renal disease v1.37 EMP2 Eleanor Williams Added comment: Comment on list classification: The rating of this gene has been left as green, but with a recommendation for demotion to amber following expert review of the evidence.
Unexplained young onset end-stage renal disease v1.37 EMP2 Eleanor Williams Gene: emp2 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v1.36 EMP2 Eleanor Williams commented on gene: EMP2: In a review of this gene on the Proteinuric renal disease panel, Daniel Gale (UCL) states "A single study from 2014 (PMID: 24814193) reports biallelic (1 x nonsense and 2 x missense) rare EMP2 variants in 4 individuals with steroid sensitive nephrotic syndrome from 3 (out of 1600) nephrotic syndrome cases studied and this finding has not been replicated in further studies of SSNS (PMID: 29058154) or knockout mice (PMID: 31508419). Subsequent data from GnomAD does not show evidence of depletion of LoF or missense variation in this gene and no signal has been reported in gene-based burden or variant testing of large cohorts. Therefore further evidence is needed for biallelic mutations in this gene to be clinically reportable."
Unexplained young onset end-stage renal disease v1.36 EMP2 Eleanor Williams Tag Q2_22_rating tag was added to gene: EMP2.
Unexplained young onset end-stage renal disease v1.36 EMP2 Eleanor Williams Tag Q2_21_rating was removed from gene: EMP2.
Unexplained young onset end-stage renal disease v1.36 EMP2 Eleanor Williams Tag Q2_21_rating tag was added to gene: EMP2.
Unexplained young onset end-stage renal disease v1.36 PODXL Eleanor Williams Tag gene-checked tag was added to gene: PODXL.
Unexplained young onset end-stage renal disease v1.36 TBC1D8B Eleanor Williams Tag gene-checked tag was added to gene: TBC1D8B.
Unexplained young onset end-stage renal disease v1.36 TNS2 Eleanor Williams Tag gene-checked tag was added to gene: TNS2.
Unexplained young onset end-stage renal disease v1.36 TRAP1 Eleanor Williams Tag gene-checked tag was added to gene: TRAP1.
Unexplained young onset end-stage renal disease v1.36 TXNDC15 Eleanor Williams Tag gene-checked tag was added to gene: TXNDC15.
Unexplained young onset end-stage renal disease v1.36 MT-TF Arina Puzriakova Tag gene-checked tag was added to gene: MT-TF.
Unexplained young onset end-stage renal disease v1.36 ITSN1 Arina Puzriakova Tag gene-checked tag was added to gene: ITSN1.
Unexplained young onset end-stage renal disease v1.36 FAT1 Arina Puzriakova Tag gene-checked tag was added to gene: FAT1.
Unexplained young onset end-stage renal disease v1.36 CFI Sarah Leigh Phenotypes for gene: CFI were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923 to Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923; Complement factor I deficiency, OMIM:610984
Unexplained young onset end-stage renal disease v1.35 CFI Sarah Leigh Publications for gene: CFI were set to 16621965; 15173250
Unexplained young onset end-stage renal disease v1.34 CFI Sarah Leigh Tag Q2_22_MOI tag was added to gene: CFI.
Unexplained young onset end-stage renal disease v1.34 CFI Sarah Leigh edited their review of gene: CFI: Added comment: Renal insufficiency, glomerulonephritis and pyelonephritis has been reported in Complement factor I deficiency (OMIM:610984)(PMID:17018561; 10352206), therefore it would be appropriate for the mode of inheritance to be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal on this panel.; Changed publications to: 17018561, 10352206; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v1.34 ZNF423 Arina Puzriakova Phenotypes for gene: ZNF423 were changed from Ciliopathy genes associated with cystic kidney disease to Joubert syndrome 19, OMIM:614844; Nephronophthisis 14, OMIM:614844
Unexplained young onset end-stage renal disease v1.33 ISCA-37432-Loss Arina Puzriakova commented on Region: ISCA-37432-Loss
Unexplained young onset end-stage renal disease v1.33 ISCA-37405-Loss Arina Puzriakova commented on Region: ISCA-37405-Loss
Unexplained young onset end-stage renal disease v1.33 ISCA-37401-Loss Ivone Leong commented on Region: ISCA-37401-Loss
Unexplained young onset end-stage renal disease v1.33 ISCA-37405-Loss Arina Puzriakova GRCh38 position for ISCA-37405-Loss was changed from 110122329-110205017 to 110104531-110228181.
Haploinsufficiency Score for ISCA-37405-Loss was changed from 3 to 30.
Required Overlap Percentage for ISCA-37405-Loss was changed from 80 to 60.
Unexplained young onset end-stage renal disease v1.33 ISCA-37432-Loss Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
Unexplained young onset end-stage renal disease v1.33 ISCA-37401-Loss Arina Puzriakova Required Overlap Percentage for ISCA-37401-Loss was changed from 80 to 60.
Unexplained young onset end-stage renal disease v1.32 TRIM8 Eleanor Williams Tag Q4_21_rating was removed from gene: TRIM8.
Tag Q4_21_NHS_review was removed from gene: TRIM8.
Unexplained young onset end-stage renal disease v1.32 TRIM8 Eleanor Williams commented on gene: TRIM8
Unexplained young onset end-stage renal disease v1.31 TRIM8 Eleanor Williams Source Expert Review Green was added to TRIM8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v1.30 VIPAS39 Eleanor Williams Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
Unexplained young onset end-stage renal disease v1.29 VIPAS39 Eleanor Williams Tag for-review was removed from gene: VIPAS39.
Unexplained young onset end-stage renal disease v1.29 CD151 Eleanor Williams commented on gene: CD151: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval. This change is from 'Unknown' to 'BIALLELIC, autosomal or pseudoautosomal'.
Unexplained young onset end-stage renal disease v1.29 VIPAS39 Eleanor Williams commented on gene: VIPAS39: The rating of this gene has been updated following NHS Genomic Medicine Service approval. The reviewers note a clear kidney involvement.
Unexplained young onset end-stage renal disease v1.28 CD151 Eleanor Williams Source Expert list was added to CD151.
Unexplained young onset end-stage renal disease v1.28 VIPAS39 Eleanor Williams Source Expert Review Green was added to VIPAS39.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v1.27 XPNPEP3 Sarah Leigh Tag Q1_22_rating tag was added to gene: XPNPEP3.
Unexplained young onset end-stage renal disease v1.27 XPNPEP3 Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; Changed rating: GREEN
Unexplained young onset end-stage renal disease v1.27 XPNPEP3 Sarah Leigh Classified gene: XPNPEP3 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v1.27 XPNPEP3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Unexplained young onset end-stage renal disease v1.27 XPNPEP3 Sarah Leigh Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v1.26 XPNPEP3 Sarah Leigh Mode of inheritance for gene: XPNPEP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v1.25 XPNPEP3 Sarah Leigh Phenotypes for gene: XPNPEP3 were changed from Ciliopathy genes associated with cystic kidney disease to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163
Unexplained young onset end-stage renal disease v1.24 XPNPEP3 Sarah Leigh Publications for gene: XPNPEP3 were set to
Unexplained young onset end-stage renal disease v1.23 TRIM8 Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: TRIM8.
Unexplained young onset end-stage renal disease v1.23 COL4A4 Arina Puzriakova Phenotypes for gene: COL4A4 were changed from Hematuria,familial benign; Alport syndrome, autosomal recessive, 203780 to Alport syndrome 2, autosomal recessive, OMIM:203780; Hematuria,familial benign, OMIM:141200
Unexplained young onset end-stage renal disease v1.22 TRIM8 Ivone Leong Tag Q4_21_rating tag was added to gene: TRIM8.
Unexplained young onset end-stage renal disease v1.22 TRIM8 Ivone Leong Classified gene: TRIM8 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v1.22 TRIM8 Ivone Leong Gene: trim8 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v1.21 TRIM8 Ivone Leong changed review comment from: Comment on list classification: New gene added by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given a Green rating.; to: Comment on list classification: New gene added by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Unexplained young onset end-stage renal disease v1.21 TRIM8 Ivone Leong Entity copied from Unexplained kidney failure in young people v1.97
Unexplained young onset end-stage renal disease v1.21 TRIM8 Ivone Leong gene: TRIM8 was added
gene: TRIM8 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM8 were set to 33508234; 32531461; 32193649; 33508234
Phenotypes for gene: TRIM8 were set to nephrotic syndrome; epilepsy; Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428
Mode of pathogenicity for gene: TRIM8 was set to Other
Unexplained young onset end-stage renal disease v1.20 CFB Eleanor Williams commented on gene: CFB: In OMIM this gene is also provisionally associated with Complement factor B deficiency based on evidence from one family with biallelic variants in CFB. However, given the phenotype/level of evidence it is not appropriate to change the mode of inheritance to Both monoallelic and biallelic on this panel.
Unexplained young onset end-stage renal disease v1.20 COQ2 Ivone Leong Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1 301050 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Unexplained young onset end-stage renal disease v1.19 TBC1D8B Ivone Leong Added comment: Comment on phenotypes: Previously:
Steroid-resistant nephrotic syndrome
Unexplained young onset end-stage renal disease v1.19 TBC1D8B Ivone Leong Phenotypes for gene: TBC1D8B were changed from Steroid-resistant nephrotic syndrome to Nephrotic syndrome, type 20, OMIM:301028
Unexplained young onset end-stage renal disease v1.18 OCRL Eleanor Williams Publications for gene: OCRL were set to 21249396; 17384968
Unexplained young onset end-stage renal disease v1.17 OCRL Eleanor Williams Phenotypes for gene: OCRL were changed from LOWE OCULOCEREBRORENAL SYNDROME #309000; Dent disease 2 #300555 to Lowe syndrome, OMIM:309000; Dent disease 2, OMIM:300555
Unexplained young onset end-stage renal disease v1.16 OCRL Eleanor Williams edited their review of gene: OCRL: Added comment: Genotype/Phenotype information: PMID: 33517444 - Ramadesikan et al 2021 - studied the cellular effect of 7 OCRL1 (OCRL) variants identified in Lowe Syndrome patients in kidney epithelial cells. Differences in cell spreading, ciliogenesis, protein localization and degree of Golgi apparatus fragmentation were observed. The results help provide a framework to explain symptom heterogeneity and may help stratify patients; Changed publications: 33517444
Unexplained young onset end-stage renal disease v1.16 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome type 1 209900 to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
Unexplained young onset end-stage renal disease v1.15 OCRL Arina Puzriakova Source: Expert Review Red was removed from gene: OCRL
Unexplained young onset end-stage renal disease v1.14 BSND Arina Puzriakova Source: Expert Review Red was removed from gene: BSND
Unexplained young onset end-stage renal disease v1.13 ICK Arina Puzriakova Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia, 612651; ECO; short-rib thoracic dysplasia with polydactyly (SRTD) to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Unexplained young onset end-stage renal disease v1.12 B9D2 Arina Puzriakova Phenotypes for gene: B9D2 were changed from Meckel syndrome; Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies to Joubert syndrome 34, OMIM:614175; Meckel syndrome 10, OMIM:614175; Meckel syndrome, type 10, MONDO:0013609
Unexplained young onset end-stage renal disease v1.11 VIPAS39 Arina Puzriakova Classified gene: VIPAS39 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v1.11 VIPAS39 Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Unexplained young onset end-stage renal disease v1.11 VIPAS39 Arina Puzriakova Gene: vipas39 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v1.10 VIPAS39 Arina Puzriakova Tag for-review tag was added to gene: VIPAS39.
Unexplained young onset end-stage renal disease v1.10 WDR60 Catherine Snow commented on gene: WDR60
Unexplained young onset end-stage renal disease v1.10 WDR60 Catherine Snow Tag new-gene-name tag was added to gene: WDR60.
Unexplained young onset end-stage renal disease v1.10 VIPAS39 Rebecca Foulger Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Unexplained young onset end-stage renal disease v1.9 VIPAS39 Rebecca Foulger changed review comment from: Comment on list classification: Updated rating from Red to Green following advice from Helen Brittain, Genomics England Clinical Team. PMID:20190753 (Cullinane et al., 2010) identify biallelic (homozygous or compound het) variants in 7 probands from consanguineous families with ARC (MIM:613404) from various ethnic backgrounds (Turkish, Croation, Israeli Arab, Italian). Variants include Q179X, T250ArgfsX279, R220X, Q291X, M1R. The paper does not further discuss the kidney phenotype but the other ARC syndrome gene, VPS33B, is already green on this panel.; to: Comment on list classification: Updated rating from Red to Green following advice from Helen Brittain, Genomics England Clinical Team. PMID:20190753 (Cullinane et al., 2010) identify biallelic (homozygous or compound het) variants in 7 probands from consanguineous families with ARC (MIM:613404) from various ethnic backgrounds (Turkish, Croation, Israeli Arab, Italian). Variants include Q179X, T250ArgfsX279, R220X, Q291X, M1R. The paper does not further discuss the kidney phenotype but the other ARC syndrome gene, VPS33B, is already green on this panel. This rating should be reviewed by GLHs at the date of next GMS panel update.
Unexplained young onset end-stage renal disease v1.9 VIPAS39 Rebecca Foulger Classified gene: VIPAS39 as Green List (high evidence)
Unexplained young onset end-stage renal disease v1.9 VIPAS39 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following advice from Helen Brittain, Genomics England Clinical Team. PMID:20190753 (Cullinane et al., 2010) identify biallelic (homozygous or compound het) variants in 7 probands from consanguineous families with ARC (MIM:613404) from various ethnic backgrounds (Turkish, Croation, Israeli Arab, Italian). Variants include Q179X, T250ArgfsX279, R220X, Q291X, M1R. The paper does not further discuss the kidney phenotype but the other ARC syndrome gene, VPS33B, is already green on this panel.
Unexplained young onset end-stage renal disease v1.9 VIPAS39 Rebecca Foulger Gene: vipas39 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v1.8 VIPAS39 Rebecca Foulger Publications for gene: VIPAS39 were set to
Unexplained young onset end-stage renal disease v1.7 CD151 Eleanor Williams Classified gene: CD151 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v1.7 CD151 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber as 2 cases have been reported with end stage renal disease, although the same variant is reported and the families are from the same ethnic origin. Also the presentation is syndromic so end-stage renal disease is unlikely to be the only phenotype picked up.
Unexplained young onset end-stage renal disease v1.7 CD151 Eleanor Williams Gene: cd151 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v1.6 CD151 Eleanor Williams Phenotypes for gene: CD151 were changed from to Nephropathy with pretibial epidermolysis bullosa and deafness 609057
Unexplained young onset end-stage renal disease v1.5 CD151 Eleanor Williams Publications for gene: CD151 were set to
Unexplained young onset end-stage renal disease v1.4 CD151 Eleanor Williams Mode of inheritance for gene: CD151 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v1.3 CD151 Eleanor Williams edited their review of gene: CD151: Added comment: Associated with Nephropathy with pretibial epidermolysis bullosa and deafness #609057 in OMIM.

The 3 patients from 2 families described in PMID: 15265795 - Karamatic Crew et al 2004 all had end-stage kidney disease and homozygous insertion in the CD151 gene. Although they are described as unrelated both families are of Indian Jewish origin. The ages of the patients are not reported.

Another case is described in PMID: 29138120 - Vahidnezhad et al 2018 where the patient had history of nephropathy with proteinuria.

PMID: 17015618 - Sachs et al 2006 - report the generation of Cd151-null mice that recapitulate the renal pathology of human patients, i.e., with age they develop massive proteinuria; Changed publications: 15265795, 29138120, 17015618; Changed phenotypes: Nephropathy with pretibial epidermolysis bullosa and deafness 609057; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v1.3 Eleanor Williams Panel version has been signed off
Unexplained young onset end-stage renal disease v1.2 Eleanor Williams Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Unexplained young onset end-stage renal disease v1.1 BNC2 Eleanor Williams Phenotypes for gene: BNC2 were changed from Posterior urethral valves; PUV; Congenital lower urinary-tract obstruction to Posterior urethral valves; PUV; Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612
Unexplained young onset end-stage renal disease v1.0 Eleanor Williams promoted panel to version 1.0
Unexplained young onset end-stage renal disease v0.163 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Unexplained young onset end-stage renal disease v0.162 TCTN3 Eleanor Williams Classified gene: TCTN3 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.162 TCTN3 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.162 TCTN3 Eleanor Williams Gene: tctn3 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.161 TCTN3 Eleanor Williams Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.160 TCTN3 Eleanor Williams Publications for gene: TCTN3 were set to
Unexplained young onset end-stage renal disease v0.159 TCTN3 Eleanor Williams Phenotypes for gene: TCTN3 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 18 614815
Unexplained young onset end-stage renal disease v0.158 TMEM231 Eleanor Williams Classified gene: TMEM231 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.158 TMEM231 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.158 TMEM231 Eleanor Williams Gene: tmem231 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.157 TMEM138 Eleanor Williams Classified gene: TMEM138 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.157 TMEM138 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.157 TMEM138 Eleanor Williams Gene: tmem138 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.156 TMEM138 Eleanor Williams Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.155 TMEM138 Eleanor Williams Publications for gene: TMEM138 were set to
Unexplained young onset end-stage renal disease v0.154 TMEM138 Eleanor Williams Phenotypes for gene: TMEM138 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 16 614465
Unexplained young onset end-stage renal disease v0.153 TMEM216 Eleanor Williams Classified gene: TMEM216 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.153 TMEM216 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.153 TMEM216 Eleanor Williams Gene: tmem216 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.152 TMEM216 Eleanor Williams Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.151 TMEM216 Eleanor Williams Publications for gene: TMEM216 were set to
Unexplained young onset end-stage renal disease v0.150 TMEM216 Eleanor Williams Phenotypes for gene: TMEM216 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 2 608091; Meckel syndrome 2 603194
Unexplained young onset end-stage renal disease v0.149 TMEM231 Eleanor Williams Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.148 TMEM231 Eleanor Williams Publications for gene: TMEM231 were set to
Unexplained young onset end-stage renal disease v0.147 TMEM231 Eleanor Williams Phenotypes for gene: TMEM231 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 20 614970; Meckel syndrome 11 615397
Unexplained young onset end-stage renal disease v0.146 TMEM237 Eleanor Williams Classified gene: TMEM237 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.146 TMEM237 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.146 TMEM237 Eleanor Williams Gene: tmem237 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.145 TMEM237 Eleanor Williams Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.144 TMEM237 Eleanor Williams Publications for gene: TMEM237 were set to
Unexplained young onset end-stage renal disease v0.143 TMEM237 Eleanor Williams Phenotypes for gene: TMEM237 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 14 614424
Unexplained young onset end-stage renal disease v0.142 TTC8 Eleanor Williams Classified gene: TTC8 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.142 TTC8 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.142 TTC8 Eleanor Williams Gene: ttc8 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.141 TTC8 Eleanor Williams Publications for gene: TTC8 were set to
Unexplained young onset end-stage renal disease v0.140 TTC8 Eleanor Williams Phenotypes for gene: TTC8 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 8 615985
Unexplained young onset end-stage renal disease v0.139 TTC8 Eleanor Williams Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.138 WDPCP Eleanor Williams Classified gene: WDPCP as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.138 WDPCP Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.138 WDPCP Eleanor Williams Gene: wdpcp has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.137 WDPCP Eleanor Williams Mode of inheritance for gene: WDPCP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.136 WDPCP Eleanor Williams Phenotypes for gene: WDPCP were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; ?Bardet-Biedl syndrome 15 615992
Unexplained young onset end-stage renal disease v0.135 TCTN1 Eleanor Williams Classified gene: TCTN1 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.135 TCTN1 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.135 TCTN1 Eleanor Williams Gene: tctn1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.134 TCTN1 Eleanor Williams Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.133 TCTN1 Eleanor Williams Phenotypes for gene: TCTN1 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 13 614173
Unexplained young onset end-stage renal disease v0.132 SDCCAG8 Eleanor Williams Classified gene: SDCCAG8 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.132 SDCCAG8 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.132 SDCCAG8 Eleanor Williams Gene: sdccag8 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.131 SDCCAG8 Eleanor Williams Publications for gene: SDCCAG8 were set to
Unexplained young onset end-stage renal disease v0.130 SDCCAG8 Eleanor Williams Phenotypes for gene: SDCCAG8 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 16 615993; Senior-Loken syndrome 7 613615
Unexplained young onset end-stage renal disease v0.129 SDCCAG8 Eleanor Williams Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.128 PMM2 Eleanor Williams Classified gene: PMM2 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.128 PMM2 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.128 PMM2 Eleanor Williams Gene: pmm2 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.127 PMM2 Eleanor Williams Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia 212065
Unexplained young onset end-stage renal disease v0.126 PMM2 Eleanor Williams Added comment: Comment on publications: Publication from the renal ciliopathies panel
Unexplained young onset end-stage renal disease v0.126 PMM2 Eleanor Williams Publications for gene: PMM2 were set to
Unexplained young onset end-stage renal disease v0.125 PMM2 Eleanor Williams Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.124 NEK8 Eleanor Williams Classified gene: NEK8 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.124 NEK8 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.124 NEK8 Eleanor Williams Gene: nek8 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.123 MKS1 Eleanor Williams Classified gene: MKS1 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.123 MKS1 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.123 MKS1 Eleanor Williams Gene: mks1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.122 MKS1 Eleanor Williams Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.121 MKS1 Eleanor Williams Publications for gene: MKS1 were set to
Unexplained young onset end-stage renal disease v0.120 MKS1 Eleanor Williams Phenotypes for gene: MKS1 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 13 615990; Meckel syndrome 1 249000
Unexplained young onset end-stage renal disease v0.119 KIF7 Eleanor Williams Classified gene: KIF7 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.119 KIF7 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.119 KIF7 Eleanor Williams Gene: kif7 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.118 KIF7 Eleanor Williams Added comment: Comment on mode of inheritance: Acrocallosal syndrome/Joubert syndrome 12 are listed as AR in OMIM.
Unexplained young onset end-stage renal disease v0.118 KIF7 Eleanor Williams Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.117 KIF7 Eleanor Williams Phenotypes for gene: KIF7 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Acrocallosal syndrome 200990; Joubert syndrome 12 200990
Unexplained young onset end-stage renal disease v0.116 INPP5E Eleanor Williams Classified gene: INPP5E as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.116 INPP5E Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.116 INPP5E Eleanor Williams Gene: inpp5e has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.115 INPP5E Eleanor Williams Mode of inheritance for gene: INPP5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.114 INPP5E Eleanor Williams Phenotypes for gene: INPP5E were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 1 213300
Unexplained young onset end-stage renal disease v0.113 CEP41 Eleanor Williams Classified gene: CEP41 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.113 CEP41 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.113 CEP41 Eleanor Williams Gene: cep41 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.112 CEP41 Eleanor Williams Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.111 CEP41 Eleanor Williams Phenotypes for gene: CEP41 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 15 614464
Unexplained young onset end-stage renal disease v0.110 CEP290 Eleanor Williams Classified gene: CEP290 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.110 CEP290 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.110 CEP290 Eleanor Williams Gene: cep290 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.109 CEP290 Eleanor Williams Publications for gene: CEP290 were set to
Unexplained young onset end-stage renal disease v0.108 CEP290 Eleanor Williams Phenotypes for gene: CEP290 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 5 610188lLeber congenital amaurosis 10 611755
Unexplained young onset end-stage renal disease v0.107 CC2D2A Eleanor Williams Classified gene: CC2D2A as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.107 CC2D2A Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.107 CC2D2A Eleanor Williams Gene: cc2d2a has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.106 CC2D2A Eleanor Williams Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.105 CC2D2A Eleanor Williams Publications for gene: CC2D2A were set to
Unexplained young onset end-stage renal disease v0.104 CC2D2A Eleanor Williams Phenotypes for gene: CC2D2A were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 9 612285; Meckel syndrome 6 612284
Unexplained young onset end-stage renal disease v0.103 C5orf42 Eleanor Williams Classified gene: C5orf42 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.103 C5orf42 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.103 C5orf42 Eleanor Williams Gene: c5orf42 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.102 C5orf42 Eleanor Williams Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.101 C5orf42 Eleanor Williams Publications for gene: C5orf42 were set to
Unexplained young onset end-stage renal disease v0.100 C5orf42 Eleanor Williams Phenotypes for gene: C5orf42 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 17 614615
Unexplained young onset end-stage renal disease v0.99 BBS9 Eleanor Williams Classified gene: BBS9 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.99 BBS9 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.99 BBS9 Eleanor Williams Gene: bbs9 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.98 BBS9 Eleanor Williams Mode of inheritance for gene: BBS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.97 BBS9 Eleanor Williams Publications for gene: BBS9 were set to
Unexplained young onset end-stage renal disease v0.96 BBS9 Eleanor Williams Phenotypes for gene: BBS9 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 9 615986
Unexplained young onset end-stage renal disease v0.95 BBS5 Eleanor Williams Classified gene: BBS5 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.95 BBS5 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.95 BBS5 Eleanor Williams Gene: bbs5 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.94 BBS5 Eleanor Williams Mode of inheritance for gene: BBS5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.93 BBS5 Eleanor Williams Publications for gene: BBS5 were set to
Unexplained young onset end-stage renal disease v0.92 BBS5 Eleanor Williams Phenotypes for gene: BBS5 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 5 615983
Unexplained young onset end-stage renal disease v0.91 BBS4 Eleanor Williams Classified gene: BBS4 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.91 BBS4 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.91 BBS4 Eleanor Williams Gene: bbs4 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.90 BBS4 Eleanor Williams Mode of inheritance for gene: BBS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.89 BBS4 Eleanor Williams Publications for gene: BBS4 were set to
Unexplained young onset end-stage renal disease v0.88 BBS4 Eleanor Williams Phenotypes for gene: BBS4 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 4 615982
Unexplained young onset end-stage renal disease v0.87 BBS2 Eleanor Williams Classified gene: BBS2 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.87 BBS2 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.87 BBS2 Eleanor Williams Gene: bbs2 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.86 BBS2 Eleanor Williams Mode of inheritance for gene: BBS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.85 BBS2 Eleanor Williams Publications for gene: BBS2 were set to
Unexplained young onset end-stage renal disease v0.84 BBS2 Eleanor Williams Phenotypes for gene: BBS2 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 2 615981
Unexplained young onset end-stage renal disease v0.83 BBS12 Eleanor Williams Classified gene: BBS12 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.83 BBS12 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.83 BBS12 Eleanor Williams Gene: bbs12 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.82 BBS12 Eleanor Williams Mode of inheritance for gene: BBS12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.81 BBS12 Eleanor Williams Publications for gene: BBS12 were set to
Unexplained young onset end-stage renal disease v0.80 BBS12 Eleanor Williams Phenotypes for gene: BBS12 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 12 615989
Unexplained young onset end-stage renal disease v0.79 BBS10 Eleanor Williams Classified gene: BBS10 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.79 BBS10 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.79 BBS10 Eleanor Williams Gene: bbs10 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.78 BBS10 Eleanor Williams Phenotypes for gene: BBS10 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome 10 615987
Unexplained young onset end-stage renal disease v0.77 BBS10 Eleanor Williams Publications for gene: BBS10 were set to
Unexplained young onset end-stage renal disease v0.76 BBS10 Eleanor Williams Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.75 BBS1 Eleanor Williams Classified gene: BBS1 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.75 BBS1 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.75 BBS1 Eleanor Williams Gene: bbs1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.74 BBS1 Eleanor Williams Phenotypes for gene: BBS1 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardet-Biedl syndrome type 1 209900
Unexplained young onset end-stage renal disease v0.73 BBS1 Eleanor Williams Publications for gene: BBS1 were set to
Unexplained young onset end-stage renal disease v0.72 BBS1 Eleanor Williams Mode of inheritance for gene: BBS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.71 ARL6 Eleanor Williams Classified gene: ARL6 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.71 ARL6 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.71 ARL6 Eleanor Williams Gene: arl6 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.70 ARL6 Eleanor Williams Mode of inheritance for gene: ARL6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.69 ARL6 Eleanor Williams Publications for gene: ARL6 were set to
Unexplained young onset end-stage renal disease v0.68 ARL6 Eleanor Williams Phenotypes for gene: ARL6 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Bardel-Biedl syndrome type 3 600151
Unexplained young onset end-stage renal disease v0.67 ARL13B Eleanor Williams Classified gene: ARL13B as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.67 ARL13B Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.67 ARL13B Eleanor Williams Gene: arl13b has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.66 ARL13B Eleanor Williams Phenotypes for gene: ARL13B were changed from Ciliopathy genes associated with cystic kidney disease; Joubert syndrome type 8 to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome type 8 612291
Unexplained young onset end-stage renal disease v0.65 ARL13B Eleanor Williams Phenotypes for gene: ARL13B were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome type 8
Unexplained young onset end-stage renal disease v0.64 ARL13B Eleanor Williams Publications for gene: ARL13B were set to
Unexplained young onset end-stage renal disease v0.63 ARL13B Eleanor Williams Mode of inheritance for gene: ARL13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.62 ALMS1 Eleanor Williams Classified gene: ALMS1 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.62 ALMS1 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.62 ALMS1 Eleanor Williams Gene: alms1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.61 ALMS1 Eleanor Williams Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.60 ALMS1 Eleanor Williams Publications for gene: ALMS1 were set to
Unexplained young onset end-stage renal disease v0.59 ALMS1 Eleanor Williams Phenotypes for gene: ALMS1 were changed from to Alstrom Syndrome; Bardet-Biedl Syndrome; 203800; Alstrom syndrome
Unexplained young onset end-stage renal disease v0.58 AHI1 Eleanor Williams Publications for gene: AHI1 were set to
Unexplained young onset end-stage renal disease v0.57 AHI1 Eleanor Williams Classified gene: AHI1 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.57 AHI1 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.57 AHI1 Eleanor Williams Gene: ahi1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.56 ANOS1 Eleanor Williams changed review comment from: PMID:9719154 reports overt renal failure in one adult with a contiguous deletion involving KAL1/ANOS1, and evidence of impaired renal function in a second adult with a clinical diagnosis of Kallmann syndrome. Both had unilateral renal agenesis.

Note on MOI - PMID: 11297579 - Oliveira et al 2001 - report that "Genetically proven female carriers of KAL mutations in 3 families all had normal pubertal development, with regular menstrual cycles and normal olfaction". They also evaluated three families in which anosmic women gave birth to sons with KS, and none had any mutation in the coding sequence of the KAL gene.

Therefore I think the MOI should be X-LINKED: hemizygous mutation in males, biallelic mutations in females as monoallelic females do not appear to present with the relevant phenotype.; to: PMID:9719154 Duke et al 1998 - reports overt renal failure in one adult with a contiguous deletion involving KAL1/ANOS1, and evidence of impaired renal function in a second adult with a clinical diagnosis of Kallmann syndrome. Both had unilateral renal agenesis.

PMID: 17603054 - Georgopoulos et al 2007 - report renal dysgenesis in 2 out of 16 male KS patients. One had two missense mutations in the KAL1 gene, the other had deletion of exons 5–10 of the KAL1 gene and a complete deletion of the steroid sulphatase (STS) gene which accounts for the X-linked ichthyosis seen in that patient.

PMID: 23533228 - Costa-Barbosa et al 2014 - report a cohort of 38 Kallman syndrome patients with rare variants in KAL1. 3/17 of them (where data was available) had renal agenesis.

PMID: 25597551 - Xu et al 2015 - report 2 Chinese brothers with KS and X-linked ichthyosis. The phenotypes of the patients were characterised by bilateral cryptorchidism, unilateral renal agenesis in one patient but normal kidney development in another. The two affected siblings had the same novel deletion at Xp22.3 including exons 9-14 of KAL1 gene and entire STS gene.

Note on MOI - PMID: 11297579 - Oliveira et al 2001 - report that "Genetically proven female carriers of KAL mutations in 3 families all had normal pubertal development, with regular menstrual cycles and normal olfaction". They also evaluated three families in which anosmic women gave birth to sons with KS, and none had any mutation in the coding sequence of the KAL gene.

Therefore I think the MOI should be X-LINKED: hemizygous mutation in males, biallelic mutations in females as monoallelic females do not appear to present with the relevant phenotype.
Unexplained young onset end-stage renal disease v0.56 ANOS1 Eleanor Williams changed review comment from: Note on MOI - PMID: 11297579 - Oliveira et al 2001 - report that "Genetically proven female carriers of KAL mutations in 3 families all had normal pubertal development, with regular menstrual cycles and normal olfaction". They also evaluated three families in which anosmic women gave birth to sons with KS, and none had any mutation in the coding sequence of the KAL gene.

ANOS1 was previously known as KAL1.

Therefore I think the MOI should be X-LINKED: hemizygous mutation in males, biallelic mutations in females as monoallelic females do not appear to present with the relevant phenotype.; to: PMID:9719154 reports overt renal failure in one adult with a contiguous deletion involving KAL1/ANOS1, and evidence of impaired renal function in a second adult with a clinical diagnosis of Kallmann syndrome. Both had unilateral renal agenesis.

Note on MOI - PMID: 11297579 - Oliveira et al 2001 - report that "Genetically proven female carriers of KAL mutations in 3 families all had normal pubertal development, with regular menstrual cycles and normal olfaction". They also evaluated three families in which anosmic women gave birth to sons with KS, and none had any mutation in the coding sequence of the KAL gene.

Therefore I think the MOI should be X-LINKED: hemizygous mutation in males, biallelic mutations in females as monoallelic females do not appear to present with the relevant phenotype.
Unexplained young onset end-stage renal disease v0.56 APRT Eleanor Williams changed review comment from: Comment on list classification: Although there are enough cases with variants in this gene associated with a relevant phenotype, rating this gene as Amber just now until it is decided whether patients with nephrolithiaisis should have this panel applied or the Nephrocalcinosis or nephrolithiasis panel.; to: Comment on list classification: Although there are enough cases with variants in this gene associated with a relevant phenotype, this gene has been rated as amber on this panel since patients present with nephrolithiaisis and it is likely more appropriate for them to have the Nephrocalcinosis or nephrolithiasis panel applied. The gene is green on the Nephrocalcinosis or nephrolithiasis panel.
Unexplained young onset end-stage renal disease v0.56 APRT Eleanor Williams Classified gene: APRT as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v0.56 APRT Eleanor Williams Added comment: Comment on list classification: Although there are enough cases with variants in this gene associated with a relevant phenotype, rating this gene as Amber just now until it is decided whether patients with nephrolithiaisis should have this panel applied or the Nephrocalcinosis or nephrolithiasis panel.
Unexplained young onset end-stage renal disease v0.56 APRT Eleanor Williams Gene: aprt has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v0.55 APRT Eleanor Williams Phenotypes for gene: APRT were changed from nterstitial nephritis; chronic kidney disease; end stage renal disease; nephrolithiaisis; Adenine phosphoribosyltransferase deficiency 614723 to interstitial nephritis; chronic kidney disease; end stage renal disease; nephrolithiaisis; Adenine phosphoribosyltransferase deficiency 614723
Unexplained young onset end-stage renal disease v0.54 APRT Eleanor Williams gene: APRT was added
gene: APRT was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APRT were set to 30355577; 30106368; 25307253; 22212387
Phenotypes for gene: APRT were set to nterstitial nephritis; chronic kidney disease; end stage renal disease; nephrolithiaisis; Adenine phosphoribosyltransferase deficiency 614723
Review for gene: APRT was set to AMBER
Added comment: This gene was added to the 100,000 genomes project ' Unexplained kidney failure in young people' panel at the suggestion of external reviewer John Sayer.

Associated with Adenine phosphoribosyltransferase deficiency (#614723)(AR) in OMIM with renal failure and Urolithiasis listed as clinical features. APRT is green on the Nephrocalcinosis or nephrolithiasis panel (https://panelapp.genomicsengland.co.uk/panels/149/gene/APRT/). > 3 cases reported in OMIM where variants in APRT are associated with Adenine phosphoribosyltransferase deficiency and a renal phenotype.

Homozygous and compound heterozygous variants in APRT are associated with Adenine phosphoribosyltransferase deficiency and can lead to end-stage kidney disease if untreated. End-stage kidney disease can present under 50 years.
Sources: Expert Review
Unexplained young onset end-stage renal disease v0.53 FAN1 Eleanor Williams Classified gene: FAN1 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.53 FAN1 Eleanor Williams Added comment: Comment on list classification: Sufficient cases to rate green for association with a relevant disease and presentation can be in young adults.
Unexplained young onset end-stage renal disease v0.53 FAN1 Eleanor Williams Gene: fan1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.52 FAN1 Eleanor Williams gene: FAN1 was added
gene: FAN1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review
Mode of inheritance for gene: FAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAN1 were set to 22772369
Phenotypes for gene: FAN1 were set to interstitial nephritis; chronic kidney disease; Interstitial nephritis, karyomegalic 614817
Review for gene: FAN1 was set to GREEN
Added comment: This gene was added to the 100,000 genomes project ' Unexplained kidney failure in young people' panel at the suggestion of external reviewer John Sayer.

FAN1 associated with Interstitial nephritis, karyomegalic #614817 (AR) in OMIM. PMID: 22772369 - Zhou et al 2012 - 9 unrelated families with karyomegalic interstitial nephritis which can result in Chronic kidney disease. They identified 12 different homozygous or compound heterozygous mutations in the FAN1 gene. Eight of the 12 mutations resulted in a truncated protein. (Summary from OMIM). End-stage kidney failure ensued by a median age of 45 years in the 12 individuals with KIN and FAN1 mutations. Sufficient cases with likely disease causing mutations to rate this gene green.
Sources: Expert Review
Unexplained young onset end-stage renal disease v0.51 CLCN5 Eleanor Williams Mode of inheritance for gene: CLCN5 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Unexplained young onset end-stage renal disease v0.50 UMOD Eleanor Williams commented on gene: UMOD: Red review was for the gene on another panel.
Unexplained young onset end-stage renal disease v0.50 TTC21B Eleanor Williams Added comment: Comment on mode of inheritance: In OMIM both AR and AD are listed for Nephronophthisis 12.
Unexplained young onset end-stage renal disease v0.50 TTC21B Eleanor Williams Mode of inheritance for gene: TTC21B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.49 RET Eleanor Williams commented on gene: RET: Note on MOI - keeping BOTH mono and biallelic because Gene2Phenotype has Renal agenesis as biallalic. All other renal related conditions are monoallelic.
Unexplained young onset end-stage renal disease v0.49 OCRL Eleanor Williams commented on gene: OCRL: Red review refers to the gene on another panel.
Unexplained young onset end-stage renal disease v0.49 OCRL Eleanor Williams changed review comment from: Comment on mode of inheritance: Taking suggested MOI from GMS list for Proteinuiric renal disease; to: Comment on mode of inheritance: Taking suggested MOI from GMS list for Proteinuiric renal disease but note OMIM has XLR as the MOI.
Unexplained young onset end-stage renal disease v0.49 OCRL Eleanor Williams Added comment: Comment on mode of inheritance: Taking suggested MOI from GMS list for Proteinuiric renal disease
Unexplained young onset end-stage renal disease v0.49 OCRL Eleanor Williams Mode of inheritance for gene: OCRL was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Unexplained young onset end-stage renal disease v0.48 MUC1 Eleanor Williams Mode of pathogenicity for gene: MUC1 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
Unexplained young onset end-stage renal disease v0.47 MUC1 Eleanor Williams Publications for gene: MUC1 were set to 25738250; 24670410; 23396133; 27157321
Unexplained young onset end-stage renal disease v0.46 MUC1 Eleanor Williams commented on gene: MUC1: Numerous reports of variants within VNTR associated with mutant protein and single report of 2bp deletion outside VNTR with equivalent effect on protein (PMID: 29156055). Note: variants within VNTR are unlikely to be detected by NGS.
Unexplained young onset end-stage renal disease v0.46 COL4A4 Eleanor Williams Added comment: Comment on mode of inheritance: Changing to BOTH monoallelic and biallelic, autosomal or pseudoautosomal because it is associated with two relevant disorders one which shows biallelic and one which shows monoallelic inheritance ( Alport syndrome 2, autosomal recessive is AR and Hematuria, familial benign is AD).
Unexplained young onset end-stage renal disease v0.46 COL4A4 Eleanor Williams Mode of inheritance for gene: COL4A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.45 CLCN5 Eleanor Williams changed review comment from: Comment on mode of inheritance: PMID: 25907713 reports that female carriers can have mild symptoms of Dent disease so Xlinked (monoalllelic in females) may be more appropriate; to: Comment on mode of inheritance: PMID: 25907713 reports that female carriers can have mild symptoms of Dent disease so Xlinked (monoalllelic in females) may be more appropriate. However, this gene is associated with 4 renal diseases in OMIM (Dent disease, Hypophosphatemic rickets, Nephrolithiasis, type I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis) which are all reported as XLR so keeping as Xlinked (biallelic in females) just now.
Unexplained young onset end-stage renal disease v0.45 ANOS1 Eleanor Williams Added comment: Comment on mode of inheritance: Changing mode of inheritance to X-LINKED: hemizygous mutation in males, biallelic mutations in females as monoallelic females do not present with a disease phenotype.
Unexplained young onset end-stage renal disease v0.45 ANOS1 Eleanor Williams Mode of inheritance for gene: ANOS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Unexplained young onset end-stage renal disease v0.44 ANOS1 Eleanor Williams commented on gene: ANOS1: Note on MOI - PMID: 11297579 - Oliveira et al 2001 - report that "Genetically proven female carriers of KAL mutations in 3 families all had normal pubertal development, with regular menstrual cycles and normal olfaction". They also evaluated three families in which anosmic women gave birth to sons with KS, and none had any mutation in the coding sequence of the KAL gene.

ANOS1 was previously known as KAL1.

Therefore I think the MOI should be X-LINKED: hemizygous mutation in males, biallelic mutations in females as monoallelic females do not appear to present with the relevant phenotype.
Unexplained young onset end-stage renal disease v0.44 CLCN5 Eleanor Williams Added comment: Comment on mode of inheritance: PMID: 25907713 reports that female carriers can have mild symptoms of Dent disease so Xlinked (monoalllelic in females) may be more appropriate
Unexplained young onset end-stage renal disease v0.44 CLCN5 Eleanor Williams Mode of inheritance for gene: CLCN5 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Unexplained young onset end-stage renal disease v0.43 SEC63 Eleanor Williams changed review comment from: Check of rating - currently red on all renal panels, green on Polycystic liver disease panel.; to: Check of rating - currently red on all renal panels, green on Polycystic liver disease panel. So keep red.
Unexplained young onset end-stage renal disease v0.43 SIX1 Eleanor Williams commented on gene: SIX1: Checking rating - currently red on all renal panels so keep red.
Unexplained young onset end-stage renal disease v0.43 SEC63 Eleanor Williams commented on gene: SEC63: Check of rating - currently red on all renal panels, green on Polycystic liver disease panel.
Unexplained young onset end-stage renal disease v0.43 PRKCSH Eleanor Williams commented on gene: PRKCSH: Check of rating - currently red on all renal panels, green on Polycystic liver disease panel.
Unexplained young onset end-stage renal disease v0.43 ACTA2 Eleanor Williams commented on gene: ACTA2: Is currently red on all renal panels.
Unexplained young onset end-stage renal disease v0.43 CEP290 Eleanor Williams Added comment: Comment on mode of inheritance: Setting MOI to biallelic as per the Renal ciliopathies panel
Unexplained young onset end-stage renal disease v0.43 CEP290 Eleanor Williams Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.42 ICK Eleanor Williams commented on gene: ICK: Added new-gene-name tag, new approved HGNC gene symbol for ICK is CILK1
Unexplained young onset end-stage renal disease v0.42 ICK Eleanor Williams Tag new-gene-name tag was added to gene: ICK.
Unexplained young onset end-stage renal disease v0.42 XDH Moin Saleem reviewed gene: XDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 WDR73 Moin Saleem reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 WDR60 Moin Saleem reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 WDR35 Moin Saleem reviewed gene: WDR35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 TXNDC15 Moin Saleem reviewed gene: TXNDC15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 TRAF3IP1 Moin Saleem reviewed gene: TRAF3IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 TP53RK Moin Saleem reviewed gene: TP53RK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 TNS2 Moin Saleem reviewed gene: TNS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 TMEM107 Moin Saleem reviewed gene: TMEM107: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 TCTN2 Moin Saleem reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 TBC1D8B Moin Saleem reviewed gene: TBC1D8B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 SLC2A9 Moin Saleem reviewed gene: SLC2A9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 SLC22A12 Moin Saleem reviewed gene: SLC22A12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 PODXL Moin Saleem reviewed gene: PODXL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 OSGEP Moin Saleem reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 NUP85 Moin Saleem reviewed gene: NUP85: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 NUP133 Moin Saleem reviewed gene: NUP133: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 MT-TF Moin Saleem reviewed gene: MT-TF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 MMACHC Moin Saleem reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 MKKS Moin Saleem reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 MAGI2 Moin Saleem reviewed gene: MAGI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 LZTFL1 Moin Saleem reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 LAGE3 Moin Saleem reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 KIAA0753 Moin Saleem reviewed gene: KIAA0753: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 KIAA0586 Moin Saleem reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 ITSN1 Moin Saleem reviewed gene: ITSN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 IFT43 Moin Saleem reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 IFT122 Moin Saleem reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 ICK Moin Saleem reviewed gene: ICK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 HYLS1 Moin Saleem reviewed gene: HYLS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 HOGA1 Moin Saleem reviewed gene: HOGA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 GRHPR Moin Saleem reviewed gene: GRHPR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 GATM Moin Saleem reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 FAT1 Moin Saleem reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 EMP2 Moin Saleem reviewed gene: EMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 DYNC2H1 Moin Saleem reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 DLC1 Moin Saleem reviewed gene: DLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 DHCR7 Moin Saleem reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 DDX59 Moin Saleem reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 CSPP1 Moin Saleem reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 CFHR3 Moin Saleem reviewed gene: CFHR3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 CFHR1 Moin Saleem reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 CEP104 Moin Saleem reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 CENPF Moin Saleem reviewed gene: CENPF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 BBS7 Moin Saleem reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 B9D2 Moin Saleem reviewed gene: B9D2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 ARMC9 Moin Saleem reviewed gene: ARMC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.42 AGXT Moin Saleem reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 XDH Eleanor Williams reviewed gene: XDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 WDR73 Eleanor Williams reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 WDR60 Eleanor Williams reviewed gene: WDR60: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 WDR35 Eleanor Williams reviewed gene: WDR35: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 TXNDC15 Eleanor Williams reviewed gene: TXNDC15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 TRAF3IP1 Eleanor Williams reviewed gene: TRAF3IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 TP53RK Eleanor Williams reviewed gene: TP53RK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 TNS2 Eleanor Williams reviewed gene: TNS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 TMEM107 Eleanor Williams reviewed gene: TMEM107: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 TCTN2 Eleanor Williams reviewed gene: TCTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 TBC1D8B Eleanor Williams reviewed gene: TBC1D8B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 SLC2A9 Eleanor Williams reviewed gene: SLC2A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 SLC22A12 Eleanor Williams reviewed gene: SLC22A12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 PODXL Eleanor Williams reviewed gene: PODXL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 OSGEP Eleanor Williams reviewed gene: OSGEP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 NUP85 Eleanor Williams reviewed gene: NUP85: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 NUP133 Eleanor Williams reviewed gene: NUP133: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 MT-TF Eleanor Williams reviewed gene: MT-TF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 MMACHC Eleanor Williams reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 MKKS Eleanor Williams reviewed gene: MKKS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 MAGI2 Eleanor Williams reviewed gene: MAGI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 LZTFL1 Eleanor Williams reviewed gene: LZTFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 LAGE3 Eleanor Williams reviewed gene: LAGE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 KIAA0753 Eleanor Williams reviewed gene: KIAA0753: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 KIAA0586 Eleanor Williams reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 ITSN1 Eleanor Williams reviewed gene: ITSN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 IFT43 Eleanor Williams reviewed gene: IFT43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 IFT122 Eleanor Williams reviewed gene: IFT122: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 ICK Eleanor Williams reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 HYLS1 Eleanor Williams reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 HOGA1 Eleanor Williams reviewed gene: HOGA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 GRHPR Eleanor Williams reviewed gene: GRHPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 GATM Eleanor Williams reviewed gene: GATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 FAT1 Eleanor Williams reviewed gene: FAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 EMP2 Eleanor Williams reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 DYNC2H1 Eleanor Williams reviewed gene: DYNC2H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 DLC1 Eleanor Williams reviewed gene: DLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 DHCR7 Eleanor Williams reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 DDX59 Eleanor Williams reviewed gene: DDX59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 CSPP1 Eleanor Williams reviewed gene: CSPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 CFHR3 Eleanor Williams reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 CFHR1 Eleanor Williams reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 CEP104 Eleanor Williams reviewed gene: CEP104: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 CENPF Eleanor Williams reviewed gene: CENPF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 BBS7 Eleanor Williams reviewed gene: BBS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 B9D2 Eleanor Williams reviewed gene: B9D2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 ARMC9 Eleanor Williams reviewed gene: ARMC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.41 AGXT Eleanor Williams reviewed gene: AGXT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.40 XDH Eleanor Williams gene: XDH was added
gene: XDH was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XDH were set to 27604308; 9153281
Phenotypes for gene: XDH were set to Xanthinuria, type I, 278300
Unexplained young onset end-stage renal disease v0.40 WDR73 Eleanor Williams gene: WDR73 was added
gene: WDR73 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR73 were set to 26123727; 25466283
Phenotypes for gene: WDR73 were set to Galloway-Mowat syndrome 1 #251300
Unexplained young onset end-stage renal disease v0.40 WDR60 Eleanor Williams gene: WDR60 was added
gene: WDR60 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR60 were set to 23910462; 26874042; 25492405; 29271569
Phenotypes for gene: WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly, 615503; SHORT-RIB POLYDACTYLY; Short-rib thoracic dysplasia 8 with or without polydactyly; Jeune syndrome
Unexplained young onset end-stage renal disease v0.40 WDR35 Eleanor Williams gene: WDR35 was added
gene: WDR35 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR35 were set to Short-rib thoracic dysplasia 7 with or without polydactyly; Cranioectodermal dysplasia 2, 613610; Cranioectodermal dysplasia; Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Unexplained young onset end-stage renal disease v0.40 TXNDC15 Eleanor Williams gene: TXNDC15 was added
gene: TXNDC15 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNDC15 were set to 27894351
Phenotypes for gene: TXNDC15 were set to MGS; Meckel-Gruber syndrome
Unexplained young onset end-stage renal disease v0.40 TRAF3IP1 Eleanor Williams gene: TRAF3IP1 was added
gene: TRAF3IP1 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAF3IP1 were set to 26487268
Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9 616629
Unexplained young onset end-stage renal disease v0.40 TP53RK Eleanor Williams gene: TP53RK was added
gene: TP53RK was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP53RK were set to 28805828
Phenotypes for gene: TP53RK were set to Galloway-Mowat syndrome 4 #617730
Unexplained young onset end-stage renal disease v0.40 TNS2 Eleanor Williams gene: TNS2 was added
gene: TNS2 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TNS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNS2 were set to 29773874
Phenotypes for gene: TNS2 were set to nephrotic syndrome
Unexplained young onset end-stage renal disease v0.40 TMEM107 Eleanor Williams gene: TMEM107 was added
gene: TMEM107 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM107 were set to 22698544; 26123494; 26518474; 26595381
Phenotypes for gene: TMEM107 were set to ?Joubert syndrome 29 617562; Meckel syndrome 13 617562; Orofaciodigital syndrome XVI 617563
Unexplained young onset end-stage renal disease v0.40 TCTN2 Eleanor Williams gene: TCTN2 was added
gene: TCTN2 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN2 were set to 21565611; 25118024
Phenotypes for gene: TCTN2 were set to Meckel syndrome; Joubert syndrome, Meckel-Gruber syndrome; Joubert syndrome 24
Unexplained young onset end-stage renal disease v0.40 TBC1D8B Eleanor Williams gene: TBC1D8B was added
gene: TBC1D8B was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,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 Steroid-resistant nephrotic syndrome
Unexplained young onset end-stage renal disease v0.40 SLC2A9 Eleanor Williams gene: SLC2A9 was added
gene: SLC2A9 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC2A9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC2A9 were set to 19026395; 19926891; 21810765
Phenotypes for gene: SLC2A9 were set to {Uric acid concentration, serum, QTL 2}, 612076; Hypouricemia, renal, 2, 612076
Unexplained young onset end-stage renal disease v0.40 SLC22A12 Eleanor Williams gene: SLC22A12 was added
gene: SLC22A12 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A12 were set to 18492088
Phenotypes for gene: SLC22A12 were set to Hypouricemia, renal, 220150
Unexplained young onset end-stage renal disease v0.40 PODXL Eleanor Williams gene: PODXL was added
gene: PODXL was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PODXL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PODXL were set to 29244787; 30523047; 24048372; 28117080
Phenotypes for gene: PODXL were set to Congenital nephrotic syndrome
Unexplained young onset end-stage renal disease v0.40 OSGEP Eleanor Williams gene: OSGEP was added
gene: OSGEP was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSGEP were set to 28805828
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3 617729
Unexplained young onset end-stage renal disease v0.40 NUP85 Eleanor Williams gene: NUP85 was added
gene: NUP85 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
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 #618176
Unexplained young onset end-stage renal disease v0.40 NUP133 Eleanor Williams gene: NUP133 was added
gene: NUP133 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP133 were set to 30179222; 30427554
Phenotypes for gene: NUP133 were set to Nephrotic syndrome, type 18 618177; ?Galloway-Mowat syndrome 8 618349
Unexplained young onset end-stage renal disease v0.40 MT-TF Eleanor Williams gene: MT-TF was added
gene: MT-TF was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Publications for gene: MT-TF were set to 20142618; 11231339; 28267784; 23135609
Phenotypes for gene: MT-TF were set to renal insufficiency; Tubulointerstitial kidney disease; tubulointerstitial nephritis; renal failur
Unexplained young onset end-stage renal disease v0.40 MMACHC Eleanor Williams gene: MMACHC was added
gene: MMACHC was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 1593355; 11972107; 27324188; 24210589; 12210350; 29068997; 17874135
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400
Unexplained young onset end-stage renal disease v0.40 MKKS Eleanor Williams gene: MKKS was added
gene: MKKS was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKKS were set to 10802661; 10973238; 10973251
Phenotypes for gene: MKKS were set to Bardet Biedl syndrome 6; 236700
Unexplained young onset end-stage renal disease v0.40 MAGI2 Eleanor Williams gene: MAGI2 was added
gene: MAGI2 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MAGI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAGI2 were set to 27932480; 29773874
Phenotypes for gene: MAGI2 were set to Nephrotic syndrome, type 15 617609
Unexplained young onset end-stage renal disease v0.40 LZTFL1 Eleanor Williams gene: LZTFL1 was added
gene: LZTFL1 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LZTFL1 were set to 27312011; 23692385; 22510444
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994
Unexplained young onset end-stage renal disease v0.40 LAGE3 Eleanor Williams gene: LAGE3 was added
gene: LAGE3 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAGE3 were set to 28805828
Phenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked #301006
Unexplained young onset end-stage renal disease v0.40 KIAA0753 Eleanor Williams gene: KIAA0753 was added
gene: KIAA0753 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0753 were set to 26643951; 29138412; 28220259
Phenotypes for gene: KIAA0753 were set to Short-rib skeletal dysplasia; ?Orofaciodigital syndrome XV 617127; Joubert syndrome
Unexplained young onset end-stage renal disease v0.40 KIAA0586 Eleanor Williams gene: KIAA0586 was added
gene: KIAA0586 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0586 were set to 26096313
Phenotypes for gene: KIAA0586 were set to Joubert syndrome 23; Joubert syndrome; Short-rib thoracic dysplasia 14 with polydactyly; Short-rib dysplasia 14 with polydactyly
Unexplained young onset end-stage renal disease v0.40 ITSN1 Eleanor Williams gene: ITSN1 was added
gene: ITSN1 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ITSN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITSN1 were set to 29773874
Phenotypes for gene: ITSN1 were set to Early childhood SSNS
Unexplained young onset end-stage renal disease v0.40 IFT43 Eleanor Williams gene: IFT43 was added
gene: IFT43 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT43 were set to 22791528; 29896747; 21378380; 24027799; 28400947; 26892345
Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia 3, 614099; Sensenbrenner syndrome; Short-rib thoracic dysplasia 18 with polydactyly, 617866
Unexplained young onset end-stage renal disease v0.40 IFT122 Eleanor Williams gene: IFT122 was added
gene: IFT122 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT122 were set to 24689072; 19000668; 26792575; 24027799; 20493458; 23826986
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1, 218330; Cranioectodermal dysplasia
Unexplained young onset end-stage renal disease v0.40 ICK Eleanor Williams gene: ICK was added
gene: ICK was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 27069622; 19185282; 27466187
Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia, 612651; ECO; short-rib thoracic dysplasia with polydactyly (SRTD)
Unexplained young onset end-stage renal disease v0.40 HYLS1 Eleanor Williams gene: HYLS1 was added
gene: HYLS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYLS1 were set to 26830932; 19656802; 15843405; 18648327
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680; Joubert syndrome
Unexplained young onset end-stage renal disease v0.40 HOGA1 Eleanor Williams gene: HOGA1 was added
gene: HOGA1 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOGA1 were set to Hyperoxaluria; Primary Hyperoxaluria; Hyperoxaluria, primary, type III, 613616
Unexplained young onset end-stage renal disease v0.40 GRHPR Eleanor Williams gene: GRHPR was added
gene: GRHPR was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRHPR were set to Primary Hyperoxaluria; Primary Hyperoxaluria Type 2; Hyperoxaluria, primary, type II, 260000; Hyperoxaluria
Unexplained young onset end-stage renal disease v0.40 GATM Eleanor Williams gene: GATM was added
gene: GATM was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATM were set to 29654216
Phenotypes for gene: GATM were set to Renal fanconi syndrome and kidney failure
Mode of pathogenicity for gene: GATM was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Unexplained young onset end-stage renal disease v0.40 FAT1 Eleanor Williams gene: FAT1 was added
gene: FAT1 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT1 were set to 26905694
Phenotypes for gene: FAT1 were set to Glomerulotubular nephropathy
Unexplained young onset end-stage renal disease v0.40 EMP2 Eleanor Williams gene: EMP2 was added
gene: EMP2 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: EMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMP2 were set to 24814193
Phenotypes for gene: EMP2 were set to steroid sensitive nephrotic syndrome; Nephrotic syndrome, type 10 #615861
Unexplained young onset end-stage renal disease v0.40 DYNC2H1 Eleanor Williams gene: DYNC2H1 was added
gene: DYNC2H1 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Short-rib thoracic dysplasia 3 with or without polydactyly, 613091; Short-rib thoracic dysplasia 3 with or without polydactyly; Jeune syndrome
Unexplained young onset end-stage renal disease v0.40 DLC1 Eleanor Williams gene: DLC1 was added
gene: DLC1 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLC1 were set to 29773874
Phenotypes for gene: DLC1 were set to Childhood and adult SSNS and SRNS
Unexplained young onset end-stage renal disease v0.40 DHCR7 Eleanor Williams gene: DHCR7 was added
gene: DHCR7 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 9634533
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400
Unexplained young onset end-stage renal disease v0.40 DDX59 Eleanor Williams gene: DDX59 was added
gene: DDX59 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX59 were set to 29127725; 28711741; 23972372
Unexplained young onset end-stage renal disease v0.40 CSPP1 Eleanor Williams gene: CSPP1 was added
gene: CSPP1 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSPP1 were set to 24360807; 24360803; 24360808
Phenotypes for gene: CSPP1 were set to Meckel syndrome; Joubert syndrome 21; Joubert syndrome; Meckel-Gruber syndrome
Unexplained young onset end-stage renal disease v0.40 CFHR3 Eleanor Williams gene: CFHR3 was added
gene: CFHR3 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CFHR3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CFHR3 were set to 16998489; 17367211
Phenotypes for gene: CFHR3 were set to Hemolytic uremic syndrome, atypical, susceptibility to 235400
Unexplained young onset end-stage renal disease v0.40 CFHR1 Eleanor Williams gene: CFHR1 was added
gene: CFHR1 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CFHR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CFHR1 were set to 20800271; 16998489; 23728178; 24172683; 27458560; 24334459; 17367211
Phenotypes for gene: CFHR1 were set to IC-MPGN; Immune-complex-mediated MPGN; C3 glomerulopathy; Immune complex MPGN; Hemolytic uremic syndrome, atypical, susceptibility to, 235400; C3G
Unexplained young onset end-stage renal disease v0.40 CEP104 Eleanor Williams gene: CEP104 was added
gene: CEP104 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP104 were set to 26477546
Phenotypes for gene: CEP104 were set to Joubert syndrome 25; Joubert syndrome 25, 616781
Unexplained young onset end-stage renal disease v0.40 CENPF Eleanor Williams gene: CENPF was added
gene: CENPF was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPF were set to 26820108
Phenotypes for gene: CENPF were set to Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Unexplained young onset end-stage renal disease v0.40 BBS7 Eleanor Williams gene: BBS7 was added
gene: BBS7 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BBS7 were set to 12567324
Phenotypes for gene: BBS7 were set to Bardet Biedl syndrome 7
Unexplained young onset end-stage renal disease v0.40 B9D2 Eleanor Williams gene: B9D2 was added
gene: B9D2 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D2 were set to 21763481; 26092869
Phenotypes for gene: B9D2 were set to Meckel syndrome; Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies
Unexplained young onset end-stage renal disease v0.40 ARMC9 Eleanor Williams gene: ARMC9 was added
gene: ARMC9 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC9 were set to 28625504
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30, 617622
Unexplained young onset end-stage renal disease v0.40 AGXT Eleanor Williams gene: AGXT was added
gene: AGXT was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900; Primary Hyperoxaluria; Hyperoxaluria; primary hyperoxaluria; Primary Hyperoxaluria Type 1
Unexplained young onset end-stage renal disease v0.39 Eleanor Williams Panel types changed to GMS Rare Disease
Unexplained young onset end-stage renal disease v0.38 SLC7A9 Eleanor Williams Classified gene: SLC7A9 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.38 SLC7A9 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Nephrocalcinosis or nephrolithiasis panel. Can cause renal failure.
Unexplained young onset end-stage renal disease v0.38 SLC7A9 Eleanor Williams Gene: slc7a9 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.37 SLC7A9 Eleanor Williams gene: SLC7A9 was added
gene: SLC7A9 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other
Mode of inheritance for gene: SLC7A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SLC7A9 were set to Cystinuria 220100
Added comment: Adding gene at recommendation of Genomics England clinical team.
Sources: Other
Unexplained young onset end-stage renal disease v0.36 SEC61A1 Eleanor Williams Classified gene: SEC61A1 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.36 SEC61A1 Eleanor Williams Added comment: Comment on list classification: Changing rating to green. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper (1 case) and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076
Unexplained young onset end-stage renal disease v0.36 SEC61A1 Eleanor Williams Gene: sec61a1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.35 SEC61A1 Eleanor Williams Deleted their comment
Unexplained young onset end-stage renal disease v0.35 SEC61A1 Eleanor Williams changed review comment from: Comment on list classification: Changing rating from red to amber. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076; to: Comment on list classification: Changing rating from red to amber. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper (1 case) and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076
Unexplained young onset end-stage renal disease v0.35 SEC61A1 Eleanor Williams Publications for gene: SEC61A1 were set to 27392076
Unexplained young onset end-stage renal disease v0.34 SEC61A1 Eleanor Williams Classified gene: SEC61A1 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v0.34 SEC61A1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076
Unexplained young onset end-stage renal disease v0.34 SEC61A1 Eleanor Williams Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v0.33 SEC61A1 Eleanor Williams gene: SEC61A1 was added
gene: SEC61A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61A1 were set to 27392076
Phenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4 617056
Added comment: Adding gene to panel at suggestion of Genomics England clinical team
Sources: Other
Unexplained young onset end-stage renal disease v0.32 IQCB1 Eleanor Williams Classified gene: IQCB1 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.32 IQCB1 Eleanor Williams Added comment: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Renal ciliopathies panel. Should be green if NPHP1 is green.
Unexplained young onset end-stage renal disease v0.32 IQCB1 Eleanor Williams Gene: iqcb1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.31 IQCB1 Eleanor Williams Phenotypes for gene: IQCB1 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Senior-Loken syndrome 5 609254
Unexplained young onset end-stage renal disease v0.30 IQCB1 Eleanor Williams Mode of inheritance for gene: IQCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.29 SLC3A1 Eleanor Williams Classified gene: SLC3A1 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.29 SLC3A1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Nephrocalcinosis or nephrolithiasis panel. Can cause renal failure.
Unexplained young onset end-stage renal disease v0.29 SLC3A1 Eleanor Williams Gene: slc3a1 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.28 SLC3A1 Eleanor Williams gene: SLC3A1 was added
gene: SLC3A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other
Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SLC3A1 were set to Cystinuria 220100
Added comment: Adding gene to the panel on recommendation of Genomics England clinical team
Sources: Other
Unexplained young onset end-stage renal disease v0.27 CRB2 Eleanor Williams Publications for gene: CRB2 were set to 25557780
Unexplained young onset end-stage renal disease v0.26 CRB2 Eleanor Williams changed review comment from: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 paper and green on Renal ciliopathies and Proteinuric renal disease panels.; to: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Renal ciliopathies and Proteinuric renal disease panels.
Unexplained young onset end-stage renal disease v0.26 CRB2 Eleanor Williams Classified gene: CRB2 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.26 CRB2 Eleanor Williams Added comment: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 paper and green on Renal ciliopathies and Proteinuric renal disease panels.
Unexplained young onset end-stage renal disease v0.26 CRB2 Eleanor Williams Gene: crb2 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.25 CRB2 Eleanor Williams Phenotypes for gene: CRB2 were changed from to Ventriculomegaly with cystic kidney disease 219730
Unexplained young onset end-stage renal disease v0.24 CRB2 Eleanor Williams gene: CRB2 was added
gene: CRB2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 25557780
Added comment: Gene suggested for addition to this panel by Genomics England clinical team.
Sources: Other
Unexplained young onset end-stage renal disease v0.23 GLA Eleanor Williams Phenotypes for gene: GLA were changed from to Fabry disease, 301500; renal insufficiency; renal failure
Unexplained young onset end-stage renal disease v0.22 GLA Eleanor Williams Publications for gene: GLA were set to
Unexplained young onset end-stage renal disease v0.21 GLA Eleanor Williams Classified gene: GLA as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.21 GLA Eleanor Williams Added comment: Comment on list classification: Upgrading from red to green on this panel on advice from Genomics England clinical team. Can present with renal disease as the main feature.
Unexplained young onset end-stage renal disease v0.21 GLA Eleanor Williams Gene: gla has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.20 Eleanor Williams List of related panels changed from to R257
Unexplained young onset end-stage renal disease v0.19 PKD1 Eleanor Williams Phenotypes for gene: PKD1 were changed from Polycystic kidney disease, adult type I, 173900 to Polycystic kidney disease, adult type I, 173900; Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD)
Unexplained young onset end-stage renal disease v0.18 PKD1 Eleanor Williams Publications for gene: PKD1 were set to 19165178; 22034641; 20558538
Unexplained young onset end-stage renal disease v0.16 GLA Eleanor Williams commented on gene: GLA: GLA is associated with Fabry disease (#301500) in OMIM


PMID: 28006774 - Turkmen et al 2016 - 3 out of 313 chronic kidney disease patients not receiving renal replacement therapy (0.95%) were diagnosed of Fabry disease by GLA gene mutation analysis. The age of the patients and their family members with Fabry disease ( total number =11) was 41.3 +/- 14.5.

PMID: 15861341 - Cybulla et al 2005 - describe a family presenting with chronic renal failure and proteinuria in which classic skin and neurological features were absent and the diagnosis of Fabry disease was difficult and not established until a second family member developed renal abnormalities. The index patient was 35 years old. Analysis of the alpha-GLA gene showed the mutation E66K. The mutation also was found in another asymptomatic 30-year-old brother who also had chronic renal failure and proteinuria, but normal extrarenal findings. Mutation carriers also included the mother, a sister (both without abnormalities), and a nephew (with episodic pains in his feet).

PMID: 15100373 - Kotanko et al 2004 - Nationwide screening of Anderson-Fabry disease among dialysis patients in Austria. Individuals with decreased leukocyte AGAL activity were subjected to mutation testing in the GLA gene, Genetic testing revealed mutations associated with Fabry disease in all four men with severely decreased AGAL activity resulting in a prevalence of 0.161% for the entire study population. Age at start of dialysis ranged from 27 to 53.
Unexplained young onset end-stage renal disease v0.16 BNC2 Louise Daugherty Classified gene: BNC2 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.16 BNC2 Louise Daugherty Added comment: Comment on list classification: Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Unexplained young onset end-stage renal disease v0.16 BNC2 Louise Daugherty Gene: bnc2 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.15 BNC2 Louise Daugherty Added comment: Comment on publications: added publication to support upgrading gene to green
Unexplained young onset end-stage renal disease v0.15 BNC2 Louise Daugherty Publications for gene: BNC2 were set to
Unexplained young onset end-stage renal disease v0.14 BNC2 Louise Daugherty Phenotypes for gene: BNC2 were changed from Posterior urethral valves; PUV to Posterior urethral valves; PUV; Congenital lower urinary-tract obstruction
Unexplained young onset end-stage renal disease v0.13 BNC2 Louise Daugherty edited their review of gene: BNC2: Added comment: New publication PMID: 31051115 Kolvenbach CM et al., (2019) supports the rating of this gene from Amber to Green. Though exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853∗]) in BNC2, encoding basonuclin 2, tracking with LUTO over three generations. Re-sequencing BNC2 in 697 individuals with LUTO revealed three further independent missense variants in three unrelated families. In human and mouse embryogenesis, basonuclin 2 was detected in lower urinary-tract rudiments. In zebrafish embryos, bnc2 was expressed in the pronephric duct and cloaca, analogs of the mammalian lower urinary tract. Experimental knockdown of Bnc2 in zebrafish caused pronephric-outlet obstruction and cloacal dilatation, phenocopying human congenital LUTO. Collectively, these results support the conclusion that variants in BNC2 are strongly implicated in LUTO etiology as a result of anatomical blockage.; Changed rating: GREEN
Unexplained young onset end-stage renal disease v0.13 GIF Louise Daugherty Tag new-gene-name tag was added to gene: GIF.
Unexplained young onset end-stage renal disease v0.13 C5orf42 Louise Daugherty Tag new-gene-name tag was added to gene: C5orf42.
Unexplained young onset end-stage renal disease v0.13 GLA Daniel Gale reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28006774, 15861341, 15100373; Phenotypes: renal insufficiency, renal failure, Fabry disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Unexplained young onset end-stage renal disease v0.11 Eleanor Williams Panel status changed from internal to public
Unexplained young onset end-stage renal disease v0.10 BSND Eleanor Williams Added comment: Comment on publications: Publication taken from the Renal tubulopathies panel
Unexplained young onset end-stage renal disease v0.10 BSND Eleanor Williams Publications for gene: BSND were set to
Unexplained young onset end-stage renal disease v0.9 OCRL Eleanor Williams Added comment: Comment on publications: Publications taken from the Proteinuric renal disease panel
Unexplained young onset end-stage renal disease v0.9 OCRL Eleanor Williams Publications for gene: OCRL were set to
Unexplained young onset end-stage renal disease v0.8 OCRL Eleanor Williams Added comment: Comment on phenotypes: Phenotypes taken from the Proteinuric renal disease panel
Unexplained young onset end-stage renal disease v0.8 OCRL Eleanor Williams Phenotypes for gene: OCRL were changed from to LOWE OCULOCEREBRORENAL SYNDROME #309000; Dent disease 2 #300555
Unexplained young onset end-stage renal disease v0.7 OCRL Eleanor Williams Deleted their comment
Unexplained young onset end-stage renal disease v0.7 OCRL Eleanor Williams Classified gene: OCRL as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.7 OCRL Eleanor Williams Added comment: Comment on list classification: Changed rating from Red to Green as this gene is Green on the Proteinuric renal disease (Version 1.85) panel.
Unexplained young onset end-stage renal disease v0.7 OCRL Eleanor Williams Gene: ocrl has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.6 OCRL Eleanor Williams Classified gene: OCRL as Red List (low evidence)
Unexplained young onset end-stage renal disease v0.6 OCRL Eleanor Williams Added comment: Comment on list classification: Changed rating from Red to Green as this gene is Green on the Proteinuric renal disease (Version 1.85) panel.
Unexplained young onset end-stage renal disease v0.6 OCRL Eleanor Williams Gene: ocrl has been classified as Red List (Low Evidence).
Unexplained young onset end-stage renal disease v0.5 CFHR5 Eleanor Williams Publications for gene: CFHR5 were set to PubMed: 20800271; 24067434
Unexplained young onset end-stage renal disease v0.4 CFHR5 Eleanor Williams Classified gene: CFHR5 as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.4 CFHR5 Eleanor Williams Added comment: Comment on list classification: Changed rating from Red to Green as this gene is Green on the Membranoproliferative glomerulonephritis (Version 1.5) panel.
Unexplained young onset end-stage renal disease v0.4 CFHR5 Eleanor Williams Gene: cfhr5 has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.3 BSND Eleanor Williams Classified gene: BSND as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.3 BSND Eleanor Williams Added comment: Comment on list classification: Changed rating from Red to Green as this gene is Green on the Renal tubulopathies (Version 1.21) panel.
Unexplained young onset end-stage renal disease v0.3 BSND Eleanor Williams Gene: bsnd has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.2 ISCA-37432-Loss Eleanor Williams commented on Region: ISCA-37432-Loss
Unexplained young onset end-stage renal disease v0.2 ISCA-37405-Loss Eleanor Williams commented on Region: ISCA-37405-Loss
Unexplained young onset end-stage renal disease v0.2 ISCA-37401-Loss Eleanor Williams commented on Region: ISCA-37401-Loss
Unexplained young onset end-stage renal disease v0.2 ZNF423 Eleanor Williams reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ZMPSTE24 Eleanor Williams reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 XPNPEP3 Eleanor Williams reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 WDPCP Eleanor Williams reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 VIPAS39 Eleanor Williams reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 UPK3A Eleanor Williams reviewed gene: UPK3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 UPK2 Eleanor Williams reviewed gene: UPK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TTC8 Eleanor Williams reviewed gene: TTC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TSHZ3 Eleanor Williams reviewed gene: TSHZ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TRIM32 Eleanor Williams reviewed gene: TRIM32: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TNXB Eleanor Williams reviewed gene: TNXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TMEM237 Eleanor Williams reviewed gene: TMEM237: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TMEM231 Eleanor Williams reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TMEM216 Eleanor Williams reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TMEM138 Eleanor Williams reviewed gene: TMEM138: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TCTN3 Eleanor Williams reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TCTN1 Eleanor Williams reviewed gene: TCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SPRY1 Eleanor Williams reviewed gene: SPRY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SOX17 Eleanor Williams reviewed gene: SOX17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SMARCA4 Eleanor Williams reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SLIT2 Eleanor Williams reviewed gene: SLIT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SLC19A3 Eleanor Williams reviewed gene: SLC19A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SLC19A2 Eleanor Williams reviewed gene: SLC19A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SIX1 Eleanor Williams reviewed gene: SIX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SHH Eleanor Williams reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SEC63 Eleanor Williams reviewed gene: SEC63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SDCCAG8 Eleanor Williams reviewed gene: SDCCAG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ROBO2 Eleanor Williams reviewed gene: ROBO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PTPRO Eleanor Williams reviewed gene: PTPRO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PRKCSH Eleanor Williams reviewed gene: PRKCSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PMM2 Eleanor Williams reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PDSS2 Eleanor Williams reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 OCRL Eleanor Williams reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NEK8 Eleanor Williams reviewed gene: NEK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MYH11 Eleanor Williams reviewed gene: MYH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MTRR Eleanor Williams reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MTR Eleanor Williams reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MKS1 Eleanor Williams reviewed gene: MKS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 KIT Eleanor Williams reviewed gene: KIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 KIF7 Eleanor Williams reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 KANK2 Eleanor Williams reviewed gene: KANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ITGB4 Eleanor Williams reviewed gene: ITGB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 IQCB1 Eleanor Williams reviewed gene: IQCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 INPP5E Eleanor Williams reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 HCN3 Eleanor Williams reviewed gene: HCN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GREM1 Eleanor Williams reviewed gene: GREM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GLIS2 Eleanor Williams reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GLA Eleanor Williams reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GIF Eleanor Williams reviewed gene: GIF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GDNF Eleanor Williams reviewed gene: GDNF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 FOXC2 Eleanor Williams reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 FOXC1 Eleanor Williams reviewed gene: FOXC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 E2F3 Eleanor Williams reviewed gene: E2F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DLG3 Eleanor Williams reviewed gene: DLG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DHFR Eleanor Williams reviewed gene: DHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DACT1 Eleanor Williams reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CYP11B2 Eleanor Williams reviewed gene: CYP11B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COX10 Eleanor Williams reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COL4A6 Eleanor Williams reviewed gene: COL4A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CHRM3 Eleanor Williams reviewed gene: CHRM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CHD1L Eleanor Williams reviewed gene: CHD1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CFHR5 Eleanor Williams reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CEP41 Eleanor Williams reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CD2AP Eleanor Williams reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CD151 Eleanor Williams reviewed gene: CD151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CCDC28B Eleanor Williams reviewed gene: CCDC28B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CC2D2A Eleanor Williams reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 C5orf42 Eleanor Williams reviewed gene: C5orf42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BSND Eleanor Williams reviewed gene: BSND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BMP4 Eleanor Williams reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BICC1 Eleanor Williams reviewed gene: BICC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS9 Eleanor Williams reviewed gene: BBS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS5 Eleanor Williams reviewed gene: BBS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS4 Eleanor Williams reviewed gene: BBS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS2 Eleanor Williams reviewed gene: BBS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS12 Eleanor Williams reviewed gene: BBS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS10 Eleanor Williams reviewed gene: BBS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS1 Eleanor Williams reviewed gene: BBS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ARL6 Eleanor Williams reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ARL13B Eleanor Williams reviewed gene: ARL13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ARHGAP24 Eleanor Williams reviewed gene: ARHGAP24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 APOL1 Eleanor Williams reviewed gene: APOL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ALMS1 Eleanor Williams reviewed gene: ALMS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ALG1 Eleanor Williams reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 AHI1 Eleanor Williams reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ACTA2 Eleanor Williams reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CEP290 Eleanor Williams reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BNC2 Eleanor Williams reviewed gene: BNC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 WDR19 Eleanor Williams reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MAPKBP1 Eleanor Williams reviewed gene: MAPKBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CEP83 Eleanor Williams reviewed gene: CEP83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 WT1 Eleanor Williams reviewed gene: WT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 VPS33B Eleanor Williams reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 VHL Eleanor Williams reviewed gene: VHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 UMOD Eleanor Williams reviewed gene: UMOD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TTC21B Eleanor Williams reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TSC2 Eleanor Williams reviewed gene: TSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TSC1 Eleanor Williams reviewed gene: TSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TRPC6 Eleanor Williams reviewed gene: TRPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TRAP1 Eleanor Williams reviewed gene: TRAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TMEM67 Eleanor Williams reviewed gene: TMEM67: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TBX18 Eleanor Williams reviewed gene: TBX18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SMARCAL1 Eleanor Williams reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SIX5 Eleanor Williams reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SGPL1 Eleanor Williams reviewed gene: SGPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SCARB2 Eleanor Williams reviewed gene: SCARB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SALL1 Eleanor Williams reviewed gene: SALL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 RRM2B Eleanor Williams reviewed gene: RRM2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 RPGRIP1L Eleanor Williams reviewed gene: RPGRIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 RET Eleanor Williams reviewed gene: RET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 REN Eleanor Williams reviewed gene: REN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PLCE1 Eleanor Williams reviewed gene: PLCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PKHD1 Eleanor Williams reviewed gene: PKHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PKD2 Eleanor Williams reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PKD1 Eleanor Williams reviewed gene: PKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PBX1 Eleanor Williams reviewed gene: PBX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PAX2 Eleanor Williams reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 OFD1 Eleanor Williams reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NUP93 Eleanor Williams reviewed gene: NUP93: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NUP107 Eleanor Williams reviewed gene: NUP107: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NPHS2 Eleanor Williams reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NPHS1 Eleanor Williams reviewed gene: NPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NPHP4 Eleanor Williams reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NPHP3 Eleanor Williams reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NPHP1 Eleanor Williams reviewed gene: NPHP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MYO1E Eleanor Williams reviewed gene: MYO1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MYH9 Eleanor Williams reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MUC1 Eleanor Williams reviewed gene: MUC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 LRIG2 Eleanor Williams reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 LMX1B Eleanor Williams reviewed gene: LMX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 LAMB2 Eleanor Williams reviewed gene: LAMB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 KYNU Eleanor Williams reviewed gene: KYNU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ITGA8 Eleanor Williams reviewed gene: ITGA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ITGA3 Eleanor Williams reviewed gene: ITGA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 INVS Eleanor Williams reviewed gene: INVS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 INF2 Eleanor Williams reviewed gene: INF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 HPSE2 Eleanor Williams reviewed gene: HPSE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 HNF1B Eleanor Williams reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 HAAO Eleanor Williams reviewed gene: HAAO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GRIP1 Eleanor Williams reviewed gene: GRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GLI3 Eleanor Williams reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GATA3 Eleanor Williams reviewed gene: GATA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GANAB Eleanor Williams reviewed gene: GANAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 FREM2 Eleanor Williams reviewed gene: FREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 FREM1 Eleanor Williams reviewed gene: FREM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 FRAS1 Eleanor Williams reviewed gene: FRAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 EYA1 Eleanor Williams reviewed gene: EYA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DZIP1L Eleanor Williams reviewed gene: DZIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DSTYK Eleanor Williams reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DNAJB11 Eleanor Williams reviewed gene: DNAJB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DGKE Eleanor Williams reviewed gene: DGKE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CUBN Eleanor Williams reviewed gene: CUBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CTNS Eleanor Williams reviewed gene: CTNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COQ8B Eleanor Williams reviewed gene: COQ8B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COQ6 Eleanor Williams reviewed gene: COQ6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COQ2 Eleanor Williams reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COL4A5 Eleanor Williams reviewed gene: COL4A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COL4A4 Eleanor Williams reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COL4A3 Eleanor Williams reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COL4A1 Eleanor Williams reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CLCN5 Eleanor Williams reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CHD7 Eleanor Williams reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CFI Eleanor Williams reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CFH Eleanor Williams reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CFB Eleanor Williams reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CEP164 Eleanor Williams reviewed gene: CEP164: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CD46 Eleanor Williams reviewed gene: CD46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 C3 Eleanor Williams reviewed gene: C3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ARHGDIA Eleanor Williams reviewed gene: ARHGDIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ANOS1 Eleanor Williams reviewed gene: ANOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ANKS6 Eleanor Williams reviewed gene: ANKS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 AMN Eleanor Williams reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 AGTR1 Eleanor Williams reviewed gene: AGTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 AGT Eleanor Williams reviewed gene: AGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ACTN4 Eleanor Williams reviewed gene: ACTN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ACTG2 Eleanor Williams reviewed gene: ACTG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ACE Eleanor Williams reviewed gene: ACE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 ISCA-37432-Loss Eleanor Williams Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to Schizophrenia; Renal cysts and diabetes syndrome; delayed development, intellectual disability; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; global developmental delay; 614527; RCAD syndrome; Chromosome 17q12 deletion syndrome; utero-vaginal atresia
Unexplained young onset end-stage renal disease v0.1 ISCA-37405-Loss Eleanor Williams Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 9856524; 8852662; 15138899
Phenotypes for Region: ISCA-37405-Loss were set to 609583; 266900; juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities
Unexplained young onset end-stage renal disease v0.1 ISCA-37401-Loss Eleanor Williams Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to 194072; Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
Unexplained young onset end-stage renal disease v0.1 ZNF423 Eleanor Williams gene: ZNF423 was added
gene: ZNF423 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ZNF423 was set to Unknown
Phenotypes for gene: ZNF423 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 ZMPSTE24 Eleanor Williams gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ZMPSTE24 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 XPNPEP3 Eleanor Williams gene: XPNPEP3 was added
gene: XPNPEP3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: XPNPEP3 was set to Unknown
Phenotypes for gene: XPNPEP3 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 WDPCP Eleanor Williams gene: WDPCP was added
gene: WDPCP was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: WDPCP was set to Unknown
Phenotypes for gene: WDPCP were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 VIPAS39 Eleanor Williams gene: VIPAS39 was added
gene: VIPAS39 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Unexplained young onset end-stage renal disease v0.1 UPK3A Eleanor Williams gene: UPK3A was added
gene: UPK3A was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: UPK3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UPK3A were set to Renal Adysplasia
Unexplained young onset end-stage renal disease v0.1 UPK2 Eleanor Williams gene: UPK2 was added
gene: UPK2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: UPK2 was set to Other - please specifiy in evaluation comments
Unexplained young onset end-stage renal disease v0.1 TTC8 Eleanor Williams gene: TTC8 was added
gene: TTC8 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TTC8 was set to Unknown
Phenotypes for gene: TTC8 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TSHZ3 Eleanor Williams gene: TSHZ3 was added
gene: TSHZ3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease v0.1 TRIM32 Eleanor Williams gene: TRIM32 was added
gene: TRIM32 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TRIM32 was set to Unknown
Phenotypes for gene: TRIM32 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TNXB Eleanor Williams gene: TNXB was added
gene: TNXB was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TNXB was set to Unknown
Unexplained young onset end-stage renal disease v0.1 TMEM237 Eleanor Williams gene: TMEM237 was added
gene: TMEM237 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM237 was set to Unknown
Phenotypes for gene: TMEM237 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TMEM231 Eleanor Williams gene: TMEM231 was added
gene: TMEM231 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM231 was set to Unknown
Phenotypes for gene: TMEM231 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TMEM216 Eleanor Williams gene: TMEM216 was added
gene: TMEM216 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM216 was set to Unknown
Phenotypes for gene: TMEM216 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TMEM138 Eleanor Williams gene: TMEM138 was added
gene: TMEM138 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM138 was set to Unknown
Phenotypes for gene: TMEM138 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TCTN3 Eleanor Williams gene: TCTN3 was added
gene: TCTN3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TCTN3 was set to Unknown
Phenotypes for gene: TCTN3 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TCTN1 Eleanor Williams gene: TCTN1 was added
gene: TCTN1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TCTN1 was set to Unknown
Phenotypes for gene: TCTN1 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 SPRY1 Eleanor Williams gene: SPRY1 was added
gene: SPRY1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SPRY1 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 SOX17 Eleanor Williams gene: SOX17 was added
gene: SOX17 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SOX17 was set to Unknown
Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3, 613674
Unexplained young onset end-stage renal disease v0.1 SMARCA4 Eleanor Williams gene: SMARCA4 was added
gene: SMARCA4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SMARCA4 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 SLIT2 Eleanor Williams gene: SLIT2 was added
gene: SLIT2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SLIT2 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 SLC19A3 Eleanor Williams gene: SLC19A3 was added
gene: SLC19A3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC19A3 was set to Unknown
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive; (originally on the Imerslund-Grasbeck syndrome gene panel)
Unexplained young onset end-stage renal disease v0.1 SLC19A2 Eleanor Williams gene: SLC19A2 was added
gene: SLC19A2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to (originally on the Imerslund-Grasbeck syndrome gene panel); Thiamine-Responsive Megaloblastic Anemia; Thiamine-responsive megaloblastic anemia syndrome, 249270
Unexplained young onset end-stage renal disease v0.1 SIX1 Eleanor Williams gene: SIX1 was added
gene: SIX1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX1 were set to Branchiootorenal Spectrum Disorders
Unexplained young onset end-stage renal disease v0.1 SHH Eleanor Williams gene: SHH was added
gene: SHH was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SHH was set to Unknown
Unexplained young onset end-stage renal disease v0.1 SEC63 Eleanor Williams gene: SEC63 was added
gene: SEC63 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SEC63 was set to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.1 SDCCAG8 Eleanor Williams gene: SDCCAG8 was added
gene: SDCCAG8 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SDCCAG8 was set to Unknown
Phenotypes for gene: SDCCAG8 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 ROBO2 Eleanor Williams gene: ROBO2 was added
gene: ROBO2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ROBO2 were set to Vesicoureteral Reflux; Vesicoureteral reflux 2, 610878
Unexplained young onset end-stage renal disease v0.1 PTPRO Eleanor Williams gene: PTPRO was added
gene: PTPRO was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: PTPRO was set to Unknown
Unexplained young onset end-stage renal disease v0.1 PRKCSH Eleanor Williams gene: PRKCSH was added
gene: PRKCSH was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: PRKCSH was set to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.1 PMM2 Eleanor Williams gene: PMM2 was added
gene: PMM2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: PMM2 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 PDSS2 Eleanor Williams gene: PDSS2 was added
gene: PDSS2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: PDSS2 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 OCRL Eleanor Williams gene: OCRL was added
gene: OCRL was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Unexplained young onset end-stage renal disease v0.1 NEK8 Eleanor Williams gene: NEK8 was added
gene: NEK8 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK8 were set to Ciliopathy genes associated with cystic kidney disease; ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415
Unexplained young onset end-stage renal disease v0.1 MYH11 Eleanor Williams gene: MYH11 was added
gene: MYH11 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYH11 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome
Unexplained young onset end-stage renal disease v0.1 MTRR Eleanor Williams gene: MTRR was added
gene: MTRR was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: MTRR was set to Unknown
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270; (originally on the Imerslund-Grasbeck syndrome gene panel)
Unexplained young onset end-stage renal disease v0.1 MTR Eleanor Williams gene: MTR was added
gene: MTR was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: MTR was set to Unknown
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; {Neural tube defects, folate-sensitive, susceptibility to}, 601634; (originally on the Imerslund-Grasbeck syndrome gene panel)
Unexplained young onset end-stage renal disease v0.1 MKS1 Eleanor Williams gene: MKS1 was added
gene: MKS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: MKS1 was set to Unknown
Phenotypes for gene: MKS1 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 KIT Eleanor Williams gene: KIT was added
gene: KIT was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: KIT was set to Unknown
Unexplained young onset end-stage renal disease v0.1 KIF7 Eleanor Williams gene: KIF7 was added
gene: KIF7 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: KIF7 was set to Unknown
Phenotypes for gene: KIF7 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 KANK2 Eleanor Williams gene: KANK2 was added
gene: KANK2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK2 were set to J Clin Invest. 2015; 125(6):2375 2384
Phenotypes for gene: KANK2 were set to Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Unexplained young onset end-stage renal disease v0.1 ITGB4 Eleanor Williams gene: ITGB4 was added
gene: ITGB4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ITGB4 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 IQCB1 Eleanor Williams gene: IQCB1 was added
gene: IQCB1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: IQCB1 was set to Unknown
Phenotypes for gene: IQCB1 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 INPP5E Eleanor Williams gene: INPP5E was added
gene: INPP5E was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: INPP5E was set to Unknown
Phenotypes for gene: INPP5E were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 HCN3 Eleanor Williams gene: HCN3 was added
gene: HCN3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: HCN3 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 GREM1 Eleanor Williams gene: GREM1 was added
gene: GREM1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: GREM1 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 GLIS2 Eleanor Williams gene: GLIS2 was added
gene: GLIS2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: GLIS2 was set to Unknown
Phenotypes for gene: GLIS2 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 GLA Eleanor Williams gene: GLA was added
gene: GLA was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Unexplained young onset end-stage renal disease v0.1 GIF Eleanor Williams gene: GIF was added
gene: GIF was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: GIF was set to Unknown
Phenotypes for gene: GIF were set to GIF mutations may phenocopy this disorder; (originally on the Imerslund-Grasbeck syndrome gene panel)
Unexplained young onset end-stage renal disease v0.1 GDNF Eleanor Williams gene: GDNF was added
gene: GDNF was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: GDNF was set to Unknown
Unexplained young onset end-stage renal disease v0.1 FOXC2 Eleanor Williams gene: FOXC2 was added
gene: FOXC2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: FOXC2 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 FOXC1 Eleanor Williams gene: FOXC1 was added
gene: FOXC1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: FOXC1 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 E2F3 Eleanor Williams gene: E2F3 was added
gene: E2F3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: E2F3 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 DLG3 Eleanor Williams gene: DLG3 was added
gene: DLG3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: DLG3 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 DHFR Eleanor Williams gene: DHFR was added
gene: DHFR was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: DHFR was set to Unknown
Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; (originally on the Imerslund-Grasbeck syndrome gene panel)
Unexplained young onset end-stage renal disease v0.1 DACT1 Eleanor Williams gene: DACT1 was added
gene: DACT1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DACT1 were set to 28054444; 19701191; 22610794
Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2,617466; TBS2
Unexplained young onset end-stage renal disease v0.1 CYP11B2 Eleanor Williams gene: CYP11B2 was added
gene: CYP11B2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CYP11B2 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 COX10 Eleanor Williams gene: COX10 was added
gene: COX10 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: COX10 was set to Unknown
Phenotypes for gene: COX10 were set to Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency
Unexplained young onset end-stage renal disease v0.1 COL4A6 Eleanor Williams gene: COL4A6 was added
gene: COL4A6 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: COL4A6 was set to Unknown
Phenotypes for gene: COL4A6 were set to (originally on Alport syndrome gene panel); diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5; diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4); Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
Unexplained young onset end-stage renal disease v0.1 CHRM3 Eleanor Williams gene: CHRM3 was added
gene: CHRM3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRM3 were set to Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altm ller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann K-P, Beetz R, Hoyer PF, Konrad M, Schaefer F, N rnberg P, Woolf AS. Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome. Am J Hum Genet 89:668-674, 2011.
Phenotypes for gene: CHRM3 were set to Low pressure congenital megabladder; Prune Belly-Like Syndrome
Unexplained young onset end-stage renal disease v0.1 CHD1L Eleanor Williams gene: CHD1L was added
gene: CHD1L was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CHD1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD1L were set to 24429398; 22146311
Phenotypes for gene: CHD1L were set to ORPHA93545; Renal or urinary tract malformation (CAKUT)
Unexplained young onset end-stage renal disease v0.1 CFHR5 Eleanor Williams gene: CFHR5 was added
gene: CFHR5 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CFHR5 were set to PubMed: 20800271; 24067434
Phenotypes for gene: CFHR5 were set to Haematuria; macroscopic haematuria; kidney failure; C3 glomerulopathy
Unexplained young onset end-stage renal disease v0.1 CEP41 Eleanor Williams gene: CEP41 was added
gene: CEP41 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CEP41 was set to Unknown
Phenotypes for gene: CEP41 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 CD2AP Eleanor Williams gene: CD2AP was added
gene: CD2AP was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CD2AP was set to Unknown
Unexplained young onset end-stage renal disease v0.1 CD151 Eleanor Williams gene: CD151 was added
gene: CD151 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CD151 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 CCDC28B Eleanor Williams gene: CCDC28B was added
gene: CCDC28B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CCDC28B was set to Unknown
Phenotypes for gene: CCDC28B were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 CC2D2A Eleanor Williams gene: CC2D2A was added
gene: CC2D2A was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CC2D2A was set to Unknown
Phenotypes for gene: CC2D2A were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 C5orf42 Eleanor Williams gene: C5orf42 was added
gene: C5orf42 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: C5orf42 was set to Unknown
Phenotypes for gene: C5orf42 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BSND Eleanor Williams gene: BSND was added
gene: BSND was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, 602522; Sensorineural deafness with mild renal dysfunction, 602522
Unexplained young onset end-stage renal disease v0.1 BMP4 Eleanor Williams gene: BMP4 was added
gene: BMP4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BMP4 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 BICC1 Eleanor Williams gene: BICC1 was added
gene: BICC1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BICC1 was set to Unknown
Phenotypes for gene: BICC1 were set to {Renal dysplasia, cystic, susceptibility to}, 601331
Unexplained young onset end-stage renal disease v0.1 BBS9 Eleanor Williams gene: BBS9 was added
gene: BBS9 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS9 was set to Unknown
Phenotypes for gene: BBS9 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS5 Eleanor Williams gene: BBS5 was added
gene: BBS5 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS5 was set to Unknown
Phenotypes for gene: BBS5 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS4 Eleanor Williams gene: BBS4 was added
gene: BBS4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS4 was set to Unknown
Phenotypes for gene: BBS4 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS2 Eleanor Williams gene: BBS2 was added
gene: BBS2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS2 was set to Unknown
Phenotypes for gene: BBS2 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS12 Eleanor Williams gene: BBS12 was added
gene: BBS12 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS12 was set to Unknown
Phenotypes for gene: BBS12 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS10 Eleanor Williams gene: BBS10 was added
gene: BBS10 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS10 was set to Unknown
Phenotypes for gene: BBS10 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS1 Eleanor Williams gene: BBS1 was added
gene: BBS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS1 was set to Unknown
Phenotypes for gene: BBS1 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 ARL6 Eleanor Williams gene: ARL6 was added
gene: ARL6 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ARL6 was set to Unknown
Phenotypes for gene: ARL6 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 ARL13B Eleanor Williams gene: ARL13B was added
gene: ARL13B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ARL13B was set to Unknown
Phenotypes for gene: ARL13B were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 ARHGAP24 Eleanor Williams gene: ARHGAP24 was added
gene: ARHGAP24 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ARHGAP24 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 APOL1 Eleanor Williams gene: APOL1 was added
gene: APOL1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: APOL1 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 ALMS1 Eleanor Williams gene: ALMS1 was added
gene: ALMS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ALMS1 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 ALG1 Eleanor Williams gene: ALG1 was added
gene: ALG1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ALG1 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 AHI1 Eleanor Williams gene: AHI1 was added
gene: AHI1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome-3 608629
Unexplained young onset end-stage renal disease v0.1 ACTA2 Eleanor Williams gene: ACTA2 was added
gene: ACTA2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA2 were set to Multi system smooth muscle dysfunction
Unexplained young onset end-stage renal disease v0.1 CEP290 Eleanor Williams gene: CEP290 was added
gene: CEP290 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Amber
Mode of inheritance for gene: CEP290 was set to Unknown
Phenotypes for gene: CEP290 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BNC2 Eleanor Williams gene: BNC2 was added
gene: BNC2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other,Expert Review Amber
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BNC2 were set to Posterior urethral valves; PUV
Mode of pathogenicity for gene: BNC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Unexplained young onset end-stage renal disease v0.1 WDR19 Eleanor Williams gene: WDR19 was added
gene: WDR19 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR19 were set to 24504730, 25726036, 23683095, 22019273
Phenotypes for gene: WDR19 were set to Nephronophthisis 13; Ciliopathy genes associated with cystic kidney disease; Senior-Loken
Unexplained young onset end-stage renal disease v0.1 MAPKBP1 Eleanor Williams gene: MAPKBP1 was added
gene: MAPKBP1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKBP1 were set to 28089251
Phenotypes for gene: MAPKBP1 were set to NEPHRONOPHTHISIS 20
Unexplained young onset end-stage renal disease v0.1 CEP83 Eleanor Williams gene: CEP83 was added
gene: CEP83 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 24882706
Phenotypes for gene: CEP83 were set to NEPHRONOPHTHISIS 18
Unexplained young onset end-stage renal disease v0.1 WT1 Eleanor Williams gene: WT1 was added
gene: WT1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WT1 were set to Nephrotic syndrome, type 4 256370
Unexplained young onset end-stage renal disease v0.1 VPS33B Eleanor Williams gene: VPS33B was added
gene: VPS33B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome; Arthrogryposis, renal dysfunction, and cholestasis 1; Arthrogryposis, renal dysfunction, and cholestasis 1, 208085; Arthrogryposis, renal dysfunction, and cholestasis
Unexplained young onset end-stage renal disease v0.1 VHL Eleanor Williams gene: VHL was added
gene: VHL was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome 193300
Unexplained young onset end-stage renal disease v0.1 UMOD Eleanor Williams gene: UMOD was added
gene: UMOD was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UMOD were set to Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Uromodulin-associated kidney disease; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860; Medullary Cystic Kidney Disease 2; Hyperuricemic nephropathy, familial juvenile 1, 162000
Unexplained young onset end-stage renal disease v0.1 TTC21B Eleanor Williams gene: TTC21B was added
gene: TTC21B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Nephronophthisis 12 613820; Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TSC2 Eleanor Williams gene: TSC2 was added
gene: TSC2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC2 were set to Tuberous sclerosis-2 613254
Unexplained young onset end-stage renal disease v0.1 TSC1 Eleanor Williams gene: TSC1 was added
gene: TSC1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSC1 were set to 9242607
Phenotypes for gene: TSC1 were set to Tuberous sclerosis-1 191100
Unexplained young onset end-stage renal disease v0.1 TRPC6 Eleanor Williams gene: TRPC6 was added
gene: TRPC6 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TRPC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPC6 were set to Glomerulosclerosis, focal segmental, 2 603965
Unexplained young onset end-stage renal disease v0.1 TRAP1 Eleanor Williams gene: TRAP1 was added
gene: TRAP1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAP1 were set to 24152966
Phenotypes for gene: TRAP1 were set to CAKUT; VACTERL 192350
Unexplained young onset end-stage renal disease v0.1 TMEM67 Eleanor Williams gene: TMEM67 was added
gene: TMEM67 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM67 were set to {Bardet-Biedl syndrome 14, modifier of}; 613550
Phenotypes for gene: TMEM67 were set to Joubert syndrome 6 610688; Nephronophthisis 11 613550; Meckel syndrome 3 607361; Ciliopathy genes associated with cystic kidney disease; {Bardet-Biedl syndrome 14, modifier of} 615991; COACH syndrome 216360
Unexplained young onset end-stage renal disease v0.1 TBX18 Eleanor Williams gene: TBX18 was added
gene: TBX18 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX18 were set to Congenital anomalies of kidney and urinary tract 2 143400
Unexplained young onset end-stage renal disease v0.1 SMARCAL1 Eleanor Williams gene: SMARCAL1 was added
gene: SMARCAL1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia 242900
Unexplained young onset end-stage renal disease v0.1 SIX5 Eleanor Williams gene: SIX5 was added
gene: SIX5 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome 2, 610896
Unexplained young onset end-stage renal disease v0.1 SGPL1 Eleanor Williams gene: SGPL1 was added
gene: SGPL1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28165343; 28165339; 28181337
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome 14 617575
Unexplained young onset end-stage renal disease v0.1 SCARB2 Eleanor Williams gene: SCARB2 was added
gene: SCARB2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Unexplained young onset end-stage renal disease v0.1 SALL1 Eleanor Williams gene: SALL1 was added
gene: SALL1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL1 were set to imperforate anus, ear abnormalities, thumb abnormalities; Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480
Unexplained young onset end-stage renal disease v0.1 RRM2B Eleanor Williams gene: RRM2B was added
gene: RRM2B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
Unexplained young onset end-stage renal disease v0.1 RPGRIP1L Eleanor Williams gene: RPGRIP1L was added
gene: RPGRIP1L was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5 611561; Ciliopathy genes associated with cystic kidney disease; COACH syndrome 216360; Joubert syndrome 7 611560
Unexplained young onset end-stage renal disease v0.1 RET Eleanor Williams gene: RET was added
gene: RET was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, 162300; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIA, 171400; Renal agenesis, 191830; {Hirschsprung disease, susceptibility to, 1}, 142623; Pheochromocytoma, 171300; Renal Adysplasia; Medullary thyroid carcinoma, 155240
Unexplained young onset end-stage renal disease v0.1 REN Eleanor Williams gene: REN was added
gene: REN was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: REN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal Tubular Dysgenesis; Renal tubular dysgenesis 267430; [Hyperproreninemia]; Hyperuricemic nephropathy, familial juvenile 2613092
Unexplained young onset end-stage renal disease v0.1 PLCE1 Eleanor Williams gene: PLCE1 was added
gene: PLCE1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to Nephrotic syndrome, type 3 610725
Unexplained young onset end-stage renal disease v0.1 PKHD1 Eleanor Williams gene: PKHD1 was added
gene: PKHD1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic Kidney Disease, Autosomal Recessive; Polycystic kidney and hepatic disease, 263200; Autosomal Recessive Polycystic Kidney Disease
Unexplained young onset end-stage renal disease v0.1 PKD2 Eleanor Williams gene: PKD2 was added
gene: PKD2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD2 were set to 23431072; 21719175; 22114106; 28356211; 18635443
Phenotypes for gene: PKD2 were set to Autosomal Dominant Polycystic Kidney Disease; Polycystic Kidney Disease, Autosomal Dominant; Polycystic kidney disease 2, 613095
Unexplained young onset end-stage renal disease v0.1 PKD1 Eleanor Williams gene: PKD1 was added
gene: PKD1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PKD1 were set to 19165178; 22034641; 20558538
Phenotypes for gene: PKD1 were set to Polycystic kidney disease, adult type I, 173900
Unexplained young onset end-stage renal disease v0.1 PBX1 Eleanor Williams gene: PBX1 was added
gene: PBX1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PBX1 were set to 28270404; 28566479
Phenotypes for gene: PBX1 were set to CAKUT
Unexplained young onset end-stage renal disease v0.1 PAX2 Eleanor Williams gene: PAX2 was added
gene: PAX2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX2 were set to Papillorenal syndrome, 120330; RENAL-COLOBOMA SYNDROME; Papillorenal syndrome; Glomerulosclerosis, focal segmental, 7; Glomerulosclerosis, focal segmental, 7 616002
Unexplained young onset end-stage renal disease v0.1 OFD1 Eleanor Williams gene: OFD1 was added
gene: OFD1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: OFD1 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: OFD1 were set to 16783569; 15221448; 11179005
Phenotypes for gene: OFD1 were set to Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Unexplained young onset end-stage renal disease v0.1 NUP93 Eleanor Williams gene: NUP93 was added
gene: NUP93 was added to Unexplained paediatric onset end-stage renal disease. Sources: 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 616892
Unexplained young onset end-stage renal disease v0.1 NUP107 Eleanor Williams gene: NUP107 was added
gene: NUP107 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP107 were set to 26411495
Phenotypes for gene: NUP107 were set to Nephrotic syndrome, type 11 616730
Unexplained young onset end-stage renal disease v0.1 NPHS2 Eleanor Williams gene: NPHS2 was added
gene: NPHS2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS2 were set to Nephrotic syndrome, type 2 600995
Unexplained young onset end-stage renal disease v0.1 NPHS1 Eleanor Williams gene: NPHS1 was added
gene: NPHS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1 256300
Unexplained young onset end-stage renal disease v0.1 NPHP4 Eleanor Williams gene: NPHP4 was added
gene: NPHP4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome 4 606996; Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 4 606966
Unexplained young onset end-stage renal disease v0.1 NPHP3 Eleanor Williams gene: NPHP3 was added
gene: NPHP3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Meckel syndrome 7, 267010; Renal-Hepatic-Pancreatic Dysplasia; Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540
Unexplained young onset end-stage renal disease v0.1 NPHP1 Eleanor Williams gene: NPHP1 was added
gene: NPHP1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHP1 were set to 266900
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4 609583; Ciliopathy genes associated with cystic kidney disease; Senior-Loken syndrome-1 266900; Nephronophthisis 1, juvenile 256100
Unexplained young onset end-stage renal disease v0.1 MYO1E Eleanor Williams gene: MYO1E was added
gene: MYO1E was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: MYO1E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO1E were set to 23595123
Phenotypes for gene: MYO1E were set to Glomerulosclerosis, focal segmental, 6 614131
Unexplained young onset end-stage renal disease v0.1 MYH9 Eleanor Williams gene: MYH9 was added
gene: MYH9 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH9 were set to Epstein syndrome 153650; Fechtner syndrome 153640
Unexplained young onset end-stage renal disease v0.1 MUC1 Eleanor Williams gene: MUC1 was added
gene: MUC1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: MUC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MUC1 were set to 25738250; 24670410; 23396133; 27157321
Phenotypes for gene: MUC1 were set to Medullary cystic kidney disease 1, 174000; Medullary cystic kidney disease 1
Unexplained young onset end-stage renal disease v0.1 LRIG2 Eleanor Williams gene: LRIG2 was added
gene: LRIG2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRIG2 were set to Stuart HM, Roberts NA, Bergu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson J, Mermerkaya M, Silay MS, Lewis MA, Olondriz BO, Gener B, Beetz C, Varga RE, G lp nar O, S er E, Yal nkaya F, G c k A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet 92:259-264, 2013.
Phenotypes for gene: LRIG2 were set to Urofacial syndrome; Urofacial syndrome 2 615112; Congenital bladder disease: dyssynergic, high pressure bladder.
Unexplained young onset end-stage renal disease v0.1 LMX1B Eleanor Williams gene: LMX1B was added
gene: LMX1B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMX1B were set to Nail-patella syndrome 161200
Unexplained young onset end-stage renal disease v0.1 LAMB2 Eleanor Williams gene: LAMB2 was added
gene: LAMB2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to Pierson syndrome 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
Unexplained young onset end-stage renal disease v0.1 KYNU Eleanor Williams gene: KYNU was added
gene: KYNU was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 27604308; 17334708; 28792876
Phenotypes for gene: KYNU were set to ?Hydroxykynureninuria, 236800; multiple congenital malformations; VACTERL-like phenotype; Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
Unexplained young onset end-stage renal disease v0.1 ITGA8 Eleanor Williams gene: ITGA8 was added
gene: ITGA8 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA8 were set to Renal hypodysplasia/aplasia 1, 191830
Unexplained young onset end-stage renal disease v0.1 ITGA3 Eleanor Williams gene: ITGA3 was added
gene: ITGA3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748
Unexplained young onset end-stage renal disease v0.1 INVS Eleanor Williams gene: INVS was added
gene: INVS was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile 602088; Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 INF2 Eleanor Williams gene: INF2 was added
gene: INF2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: INF2 were set to Glomerulosclerosis, focal segmental, 5 613237; Charcot-Marie-Tooth disease, dominant intermediate E 614455
Unexplained young onset end-stage renal disease v0.1 HPSE2 Eleanor Williams gene: HPSE2 was added
gene: HPSE2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPSE2 were set to 20560210; 20560209
Phenotypes for gene: HPSE2 were set to Congenital bladder disease: dyssynergic, high pressure bladder; Urofacial syndrome 1 236730; Urofacial Syndrome
Unexplained young onset end-stage renal disease v0.1 HNF1B Eleanor Williams gene: HNF1B was added
gene: HNF1B was added to Unexplained paediatric onset end-stage renal disease. Sources: 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 12012276; PMID: 11562418; 15085338
Phenotypes for gene: HNF1B were set to Diabetes mellitus, noninsulin-dependent 125853; {Renal cell carcinoma} 144700; Diabetes mellitus, noninsulin-dependent; Renal cysts and diabetes syndrome; Renal cysts and diabetes syndrome 137920
Unexplained young onset end-stage renal disease v0.1 HAAO Eleanor Williams gene: HAAO was added
gene: HAAO was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 27604308; 17334708; 28792876
Phenotypes for gene: HAAO were set to VACTERL-like phenotype; Multiple congenital malformations
Unexplained young onset end-stage renal disease v0.1 GRIP1 Eleanor Williams gene: GRIP1 was added
gene: GRIP1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRIP1 were set to 24700879; 14730302; 24357607; 22510445
Phenotypes for gene: GRIP1 were set to Fraser syndrome 219000; Fraser syndrome; isolated CAKUT
Unexplained young onset end-stage renal disease v0.1 GLI3 Eleanor Williams gene: GLI3 was added
gene: GLI3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome; Pallister-Hall syndrome 146510
Unexplained young onset end-stage renal disease v0.1 GATA3 Eleanor Williams gene: GATA3 was added
gene: GATA3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255; Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
Unexplained young onset end-stage renal disease v0.1 GANAB Eleanor Williams gene: GANAB was added
gene: GANAB was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GANAB were set to Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Ba ales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audr zet MP, Ferec C, Le Meur Y, Torres VE, Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group, Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Harris PC. Mutations in GANAB, Encoding the Glucosidase II Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet. 2016 Jun 2; 98(6):1193-207. doi: 10.1016/j.ajhg.2016.05.004. PubMed PMID: 27259053, PubMed Central PMCID: PMC4908191.
Phenotypes for gene: GANAB were set to Mild cystic kidney and liver disease; Polycyctic kidney disease 3
Unexplained young onset end-stage renal disease v0.1 FREM2 Eleanor Williams gene: FREM2 was added
gene: FREM2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Fraser syndrome 219000; Fraser syndrome
Unexplained young onset end-stage renal disease v0.1 FREM1 Eleanor Williams gene: FREM1 was added
gene: FREM1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FREM1 were set to PMID: 24700879
Phenotypes for gene: FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980
Unexplained young onset end-stage renal disease v0.1 FRAS1 Eleanor Williams gene: FRAS1 was added
gene: FRAS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to Fraser syndrome 219000; Fraser syndrome
Unexplained young onset end-stage renal disease v0.1 EYA1 Eleanor Williams gene: EYA1 was added
gene: EYA1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA1 were set to Branchiootorenal syndrome 1, with or without cataracts, 113650; Otofaciocervical syndrome, 166780; Branchiootic syndrome 1, 602588; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal Spectrum Disorders; Anterior segment anomalies with or without cataract, 113650
Unexplained young onset end-stage renal disease v0.1 DZIP1L Eleanor Williams gene: DZIP1L was added
gene: DZIP1L was added to Unexplained paediatric onset end-stage renal disease. Sources: 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 ARPKD; Polycystic kidney disease 5 617610
Mode of pathogenicity for gene: DZIP1L was set to Other - please provide details in the comments
Unexplained young onset end-stage renal disease v0.1 DSTYK Eleanor Williams gene: DSTYK was added
gene: DSTYK was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSTYK were set to Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; vesicoureteric reflux
Unexplained young onset end-stage renal disease v0.1 DNAJB11 Eleanor Williams gene: DNAJB11 was added
gene: DNAJB11 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green,Other
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJB11 were set to 29706351
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease; Tubulointerstitial kidney disease; cystic kidney disease; non-enlarged kidney; end stage renal failure
Unexplained young onset end-stage renal disease v0.1 DGKE Eleanor Williams gene: DGKE was added
gene: DGKE was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGKE were set to 23274426; 23542698
Phenotypes for gene: DGKE were set to Nephrotic syndrome, type 7 615008; {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008
Unexplained young onset end-stage renal disease v0.1 CUBN Eleanor Williams gene: CUBN was added
gene: CUBN was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUBN were set to 21208123; 21903995; 10080186
Phenotypes for gene: CUBN were set to Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100
Unexplained young onset end-stage renal disease v0.1 CTNS Eleanor Williams gene: CTNS was added
gene: CTNS was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to 27604308; 19863563; 9537412
Phenotypes for gene: CTNS were set to Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900
Unexplained young onset end-stage renal disease v0.1 COQ8B Eleanor Williams gene: COQ8B was added
gene: COQ8B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green,Expert Review
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 615573
Unexplained young onset end-stage renal disease v0.1 COQ6 Eleanor Williams gene: COQ6 was added
gene: COQ6 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6 614650
Unexplained young onset end-stage renal disease v0.1 COQ2 Eleanor Williams gene: COQ2 was added
gene: COQ2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1 301050
Unexplained young onset end-stage renal disease v0.1 COL4A5 Eleanor Williams gene: COL4A5 was added
gene: COL4A5 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: COL4A5 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: COL4A5 were set to Alport syndrome 301050
Unexplained young onset end-stage renal disease v0.1 COL4A4 Eleanor Williams gene: COL4A4 was added
gene: COL4A4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL4A4 were set to 25381091
Phenotypes for gene: COL4A4 were set to Hematuria,familial benign; Alport syndrome, autosomal recessive, 203780
Unexplained young onset end-stage renal disease v0.1 COL4A3 Eleanor Williams gene: COL4A3 was added
gene: COL4A3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: COL4A3 were set to 25381091
Phenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780; Alport syndrome, autosomal dominant, 104200; Hematuria, benign familial, 141200
Unexplained young onset end-stage renal disease v0.1 COL4A1 Eleanor Williams gene: COL4A1 was added
gene: COL4A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A1 were set to 20818663; 18160688
Phenotypes for gene: COL4A1 were set to raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Exophytic renal cysts; haematuria
Unexplained young onset end-stage renal disease v0.1 CLCN5 Eleanor Williams gene: CLCN5 was added
gene: CLCN5 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Nephrolithiasis, type I, 310468; Dent disease, 300009; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554
Unexplained young onset end-stage renal disease v0.1 CHD7 Eleanor Williams gene: CHD7 was added
gene: CHD7 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD7 were set to CHARGE syndrome 214800
Unexplained young onset end-stage renal disease v0.1 CFI Eleanor Williams gene: CFI was added
gene: CFI was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CFI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CFI were set to 16621965; 15173250
Phenotypes for gene: CFI were set to Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
Unexplained young onset end-stage renal disease v0.1 CFH Eleanor Williams gene: CFH was added
gene: CFH was added to Unexplained paediatric onset end-stage renal disease. Sources: 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 {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400; Complement factor H deficiency 609814
Unexplained young onset end-stage renal disease v0.1 CFB Eleanor Williams gene: CFB was added
gene: CFB was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CFB were set to 17182750; 20108004
Phenotypes for gene: CFB were set to Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
Unexplained young onset end-stage renal disease v0.1 CEP164 Eleanor Williams gene: CEP164 was added
gene: CEP164 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP164 were set to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 15 614845
Unexplained young onset end-stage renal disease v0.1 CD46 Eleanor Williams gene: CD46 was added
gene: CD46 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CD46 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CD46 were set to 14566051; 16621965; 14615110
Phenotypes for gene: CD46 were set to Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
Unexplained young onset end-stage renal disease v0.1 C3 Eleanor Williams gene: C3 was added
gene: C3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: C3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: C3 were set to 15781264; 18796626
Phenotypes for gene: C3 were set to C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
Unexplained young onset end-stage renal disease v0.1 ARHGDIA Eleanor Williams gene: ARHGDIA was added
gene: ARHGDIA was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ARHGDIA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARHGDIA were set to Nephrotic syndrome, type 8 615244
Unexplained young onset end-stage renal disease v0.1 ANOS1 Eleanor Williams gene: ANOS1 was added
gene: ANOS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ANOS1 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: ANOS1 were set to 9719154; 11531922
Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1); Kallman syndrome
Unexplained young onset end-stage renal disease v0.1 ANKS6 Eleanor Williams gene: ANKS6 was added
gene: ANKS6 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANKS6 were set to Nephronophthisis 16 615382; Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 AMN Eleanor Williams gene: AMN was added
gene: AMN was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 12590260
Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type 261100
Unexplained young onset end-stage renal disease v0.1 AGTR1 Eleanor Williams gene: AGTR1 was added
gene: AGTR1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGTR1 were set to Renal Tubular Dysgenesis; Renal tubular dysgenesis, 267430; Hypertension, essential, 145500
Unexplained young onset end-stage renal disease v0.1 AGT Eleanor Williams gene: AGT was added
gene: AGT was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGT were set to Renal Tubular Dysgenesis; {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430; Renal tubular dysgenesis, 267430
Unexplained young onset end-stage renal disease v0.1 ACTN4 Eleanor Williams gene: ACTN4 was added
gene: ACTN4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ACTN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTN4 were set to 26301083; 16251236; 10700177
Phenotypes for gene: ACTN4 were set to Glomerulosclerosis, focal segmental, 1 603278
Unexplained young onset end-stage renal disease v0.1 ACTG2 Eleanor Williams gene: ACTG2 was added
gene: ACTG2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTG2 were set to PMID: 25998219
Phenotypes for gene: ACTG2 were set to Berdon syndrome; visceral myopathy; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310; Megacystis-microcolon intestinal hypoperistalsis syndrome
Unexplained young onset end-stage renal disease v0.1 ACE Eleanor Williams gene: ACE was added
gene: ACE was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal Tubular Dysgenesis; {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular; Renal Tubular Dysgenesis 267430
Unexplained young onset end-stage renal disease v0.0 Eleanor Williams Added Panel Unexplained paediatric onset end-stage renal disease
Set panel types to: GMS Rare Disease Virtual