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Tubulointerstitial kidney disease v1.11 SEC61A1 Arina Puzriakova Classified gene: SEC61A1 as Amber List (moderate evidence)
Tubulointerstitial kidney disease v1.11 SEC61A1 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).
Tubulointerstitial kidney disease v1.11 SEC61A1 Arina Puzriakova Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Tubulointerstitial kidney disease v1.10 DNAJB11 Arina Puzriakova Classified gene: DNAJB11 as Amber List (moderate evidence)
Tubulointerstitial kidney disease v1.10 DNAJB11 Arina Puzriakova Added comment: Comment on list classification: Changed rating 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.
Tubulointerstitial kidney disease v1.10 DNAJB11 Arina Puzriakova Gene: dnajb11 has been classified as Amber List (Moderate Evidence).
Tubulointerstitial kidney disease v1.9 SEC61A1 Eleanor Williams Tag for-review tag was added to gene: SEC61A1.
Tubulointerstitial kidney disease v1.9 DNAJB11 Eleanor Williams Tag for-review tag was added to gene: DNAJB11.
Tubulointerstitial kidney disease v1.9 SEC61A1 Eleanor Williams Classified gene: SEC61A1 as Green List (high evidence)
Tubulointerstitial kidney disease v1.9 SEC61A1 Eleanor Williams Added comment: Comment on list classification: Changing rating from Amber to Green. Two familial cases reported in Bolar publication plus animal model. Further case reported in Groopman.
Tubulointerstitial kidney disease v1.9 SEC61A1 Eleanor Williams Gene: sec61a1 has been classified as Green List (High Evidence).
Tubulointerstitial kidney disease v1.8 SEC61A1 Eleanor Williams Publications for gene: SEC61A1 were set to
Tubulointerstitial kidney disease v1.7 SEC61A1 Eleanor Williams commented on gene: SEC61A1: PMID: 30586318 - Groopman et al 2019 - Patient CKD184 in Table S7 has a heterozygous missense variant p.I428M in SEC61A1. The genetic diagnosis was Hyperuricemic nephropathy familial juvenile 4.

PMID: 27392076 Bolar et al 2016 - report on two families with ADTKD and congenital anemia accompanied by either intrauterine growth retardation or neutropenia. Exclusion of known ADTKD genes coupled with linkage analysis, whole-exome sequencing, and targeted re-sequencing identified heterozygous missense variants in SEC61A1-c.553A>G (p.Thr185Ala) and c.200T>G (p.Val67Gly). Zebrafish model re-capitulated the phenotype and could not be rescued by mRNA with the pathogenic alleles.
Tubulointerstitial kidney disease v1.7 DNAJB11 Eleanor Williams Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061 to Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061; Tubulointerstitial disease
Tubulointerstitial kidney disease v1.6 DNAJB11 Eleanor Williams Publications for gene: DNAJB11 were set to
Tubulointerstitial kidney disease v1.5 DNAJB11 Eleanor Williams Classified gene: DNAJB11 as Green List (high evidence)
Tubulointerstitial kidney disease v1.5 DNAJB11 Eleanor Williams Added comment: Comment on list classification: Changing rating from amber to green. Expert review indicates that there is sufficient phenotype overlap for this gene to be green on the Tubulointerstitial kidney disease panel.
Tubulointerstitial kidney disease v1.5 DNAJB11 Eleanor Williams Gene: dnajb11 has been classified as Green List (High Evidence).
Tubulointerstitial kidney disease v1.4 DNAJB11 Eleanor Williams commented on gene: DNAJB11: Associated with Polycystic kidney disease 6 with or without polycystic liver disease #618061 (AD) in OMIM.

PMID: 29706351 - Cornec-Le Gall et al 2018 - Initially identified DNAJB11 variants by WES in two families presenting with Autosomal-dominant polycystic kidney disease (ADPKD)-like features. In family 1 a missense variant (p.Pro54Arg) was found in two family members presenting with non-enlarged polycystic kidneys. In family 2 a frameshifting change (c.166_167insTT) was found; they presented with small renal and liver cysts. Five additional multigenerational families carrying DNAJB11 mutations were identified by targeted analysis. From analysis of the phenotype and functional studies from DNAJB11-null cells they conclude that DNAJB11-associated disease is a phenotypic hybrid of ADPKD and ADTKD, characterized by normal-sized cystic kidneys and progressive interstitial fibrosis resulting in late-onset ESRD.

PMID: 29777155 - Allison 2018 - research highlight about the Cornec-Le Gall et al 2018 paper.
Tubulointerstitial kidney disease v1.4 Eleanor Williams Panel version has been signed off
Tubulointerstitial kidney disease v1.3 Eleanor Williams Panel version has been signed off
Tubulointerstitial kidney disease v1.0 SEC61A1 Zornitza Stark reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30586318; Phenotypes: Familial juvenile Hyperuricemic nephropathy-4 MIM 617056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Tubulointerstitial kidney disease v1.0 DNAJB11 Zornitza Stark reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29706351; Phenotypes: Tubulointerstitial disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Tubulointerstitial kidney disease v1.0 SEC61A1 Eleanor Williams edited their review of gene: SEC61A1: Added comment: Upgrading review rating to green, the Groopman paper increases the number of cases to 3.; Changed rating: GREEN
Tubulointerstitial kidney disease v1.0 SEC61A1 Eleanor Williams edited their review of gene: SEC61A1: Added comment: Further case reported in Groopman et al 2019 (PMID: 30586318); Changed phenotypes: Familial juvenile Hyperuricemic nephropathy-4 MIM 617056
Tubulointerstitial kidney disease v1.0 Eleanor Williams promoted panel to version 1.0
Tubulointerstitial kidney disease v0.16 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Tubulointerstitial kidney disease v0.15 Eleanor Williams List of related panels changed from to R202
Tubulointerstitial kidney disease v0.14 MUC1 Eleanor Williams Added comment: Comment on publications: Added PMID: 23946964 Bleyer and Kmoch, last updated 2016. Gene reviews entry on Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related
Tubulointerstitial kidney disease v0.14 MUC1 Eleanor Williams Publications for gene: MUC1 were set to 23396133; 29967284; 29156055; 29520014
Tubulointerstitial kidney disease v0.13 MUC1 Eleanor Williams Added comment: Comment on publications: Added PMID: 29520014 Wenzel et al 2018 which describes long read single molecule real time sequencing (SMRT) targeted to the MUC1-VNTR as an alternative strategy to the snapshot assay.
Tubulointerstitial kidney disease v0.13 MUC1 Eleanor Williams Publications for gene: MUC1 were set to 23396133; 29967284; 29156055
Tubulointerstitial kidney disease v0.11 MAPKBP1 Anna de Burca reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251; Phenotypes: NEPHRONOPHTHISIS 20; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.11 CEP83 Anna de Burca reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.11 WDR19 Anna de Burca reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.11 MUC1 Anna de Burca Classified gene: MUC1 as Green List (high evidence)
Tubulointerstitial kidney disease v0.11 MUC1 Anna de Burca Added comment: Comment on list classification: Rated as green due to numerous reports of variants within VNTR associated with mutant protein and single report of 2bp deletion outside VNTR with equivalent effect on protein. Note: variants within VNTR are unlikely to be detected by NGS.
Tubulointerstitial kidney disease v0.11 MUC1 Anna de Burca Gene: muc1 has been classified as Green List (High Evidence).
Tubulointerstitial kidney disease v0.10 MT-TF Eleanor Williams Publications for gene: MT-TF were set to PMID: 28267784; 11231339; 20142618; 23135609
Tubulointerstitial kidney disease v0.9 MT-TF Eleanor Williams Classified gene: MT-TF as Green List (high evidence)
Tubulointerstitial kidney disease v0.9 MT-TF Eleanor Williams Added comment: Comment on list classification: Rating this gene as green due to expert review and because there are more than 3 cases of individuals with variants in this gene and tubulointerstitial kidney disease.
Tubulointerstitial kidney disease v0.9 MT-TF Eleanor Williams Gene: mt-tf has been classified as Green List (High Evidence).
Tubulointerstitial kidney disease v0.8 MT-TF Eleanor Williams commented on gene: MT-TF
Tubulointerstitial kidney disease v0.8 MT-TF Daniel Gale gene: MT-TF was added
gene: MT-TF was added to Tubulointerstitial kidney disease. Sources: Literature
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Publications for gene: MT-TF were set to PMID: 28267784; 11231339; 20142618; 23135609
Phenotypes for gene: MT-TF were set to Tubulointerstitial kidney disease; tubulointerstitial nephritis; renal insufficiency; renal failure
Penetrance for gene: MT-TF were set to Complete
Review for gene: MT-TF was set to GREEN
gene: MT-TF was marked as current diagnostic
Added comment: Sources: Literature
Tubulointerstitial kidney disease v0.8 ZNF423 Eleanor Williams Classified gene: ZNF423 as Amber List (moderate evidence)
Tubulointerstitial kidney disease v0.8 ZNF423 Eleanor Williams Added comment: Comment on list classification: Changing rating to Amber after discussion of 3 cases in NHS GMS renal specialist group call on 2019-02-04 - one case NPHP, one Joubert with PKD, one PKD/NPHP.
Tubulointerstitial kidney disease v0.8 ZNF423 Eleanor Williams Gene: znf423 has been classified as Amber List (Moderate Evidence).
Tubulointerstitial kidney disease v0.7 REN Eleanor Williams Added comment: Comment on mode of inheritance: Updated MOI to "BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" after discussion in meeting with NHS GMS renal specialist group
Tubulointerstitial kidney disease v0.7 REN Eleanor Williams Mode of inheritance for gene: REN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.6 MUC1 Eleanor Williams Classified gene: MUC1 as Amber List (moderate evidence)
Tubulointerstitial kidney disease v0.6 MUC1 Eleanor Williams Added comment: Comment on list classification: Changing the rating from Green to Amber as only 1 mutation has been found outside of the VNTR region. SNVs within the VNTR are unlikely to be detected by WGS.
Tubulointerstitial kidney disease v0.6 MUC1 Eleanor Williams Gene: muc1 has been classified as Amber List (Moderate Evidence).
Tubulointerstitial kidney disease v0.5 MUC1 Eleanor Williams Publications for gene: MUC1 were set to 23396133
Tubulointerstitial kidney disease v0.4 MUC1 Eleanor Williams commented on gene: MUC1: PMID: 29156055 (Yamamoto et al 2017) report a 2-bp deletion in MUC1 in a family with autosomal dominant tubulointerstitial kidney disease. It was found by exome sequencing and is located before the VNTR. The resulting mutant MUC1 protein had a very similar amino acid sequence and predicted 3D structure to the previously reported mutant protein
Tubulointerstitial kidney disease v0.4 MUC1 Eleanor Williams commented on gene: MUC1: PMID: 29967284 (Živná et al 2018) - developed immunohistochemical methods to detect the MUC1fs created by the cytosine duplication and, possibly, by other similar frameshift mutations. Found six families with five novel MUC1 frameshift mutations within the VNTR units that all predict production of the identical MUC1fs protein that is found in patients with the 27dupC duplication.

All 191 affected families reported to date produce the same frameshifted protein.
Tubulointerstitial kidney disease v0.4 MUC1 Eleanor Williams commented on gene: MUC1: PMID: 23396133 (Kirby et al 2013) describe 6 families with an insertion of a single C in one copy (but a different copy in each family) of the repeat unit comprising the extremely long (~1.5-5 kb), GC-rich (>80%), coding VNTR in the mucin 1 gene. The insertion results in a frameshift which is predicted to produce a mutant protein that contains many copies of a novel repeat sequence but which lacks, owing to a novel stop codon shortly beyond the VNTR terminus, the downstream SEA self-cleavage module and both transmembrane and intracellular domains characteristic of the normal MUC1 precursor protein.
Tubulointerstitial kidney disease v0.4 GATM Eleanor Williams Publications for gene: GATM were set to
Tubulointerstitial kidney disease v0.3 GATM Eleanor Williams edited their review of gene: GATM: Added comment: PMID: 29654216 (Reichold et al 2018) reports 5 families with with a novel form of autosomal dominant
kidney disease characterized by renal tubular Fanconi syndrome early in life
followed by progression to renal glomerular failure in mid-adulthood. All patients show
monoallelic mutations in the gene GATM. 4 heterozygous missense mutations of evolutionary conserved amino
acid residues in GATM were found (c.958C>T, p.P320S; c.1006A>G, p.T336A; c.1007C>T, p.T336I;
c.1022C>T, p.P341L). In each family, one variant segregated with the disorder and was fully
penetrant. In silico analysis showed that the particular GATM mutations create an additional interaction interface within the GATM protein and likely cause the linear aggregation of GATM observed in patient biopsy specimens and cultured proximal tubule cells.; Changed publications: 29654216
Tubulointerstitial kidney disease v0.3 ADAMTS9 Eleanor Williams reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: ; Publications: Choi et al Am J Hum Genet. 2019.104(1):45-54. PMID: 30609407; Phenotypes: Nephronophthisis-Related Ciliopathy (no OMIM number yet); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 GATM Eleanor Williams reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: ; Phenotypes: Renal fanconi syndrome and kidney failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulointerstitial kidney disease v0.3 SEC61A1 Eleanor Williams reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial juvenile Hyperuricemic nephropathy-4 MIM 617056 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulointerstitial kidney disease v0.3 DNAJB11 Eleanor Williams reviewed gene: DNAJB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulointerstitial kidney disease v0.3 XPNPEP3 Eleanor Williams reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: ; Publications: O'Toole et al J. Clin. Invest. 120: 791-802, 2010. PubMed: 20179356; Phenotypes: Nephronopthisis-like nephropathy 1 MIM 613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 NEK8 Eleanor Williams reviewed gene: NEK8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Nephronopthisis 9 MIM 613824; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 ZNF423 Eleanor Williams reviewed gene: ZNF423: Rating: GREEN; Mode of pathogenicity: ; Publications: Chaki et al Cell 150: 533-548, 2012. PubMed: 22863007; Phenotypes: Nephronopthisis 14, Joubert syndrome 19 MIM 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 GLIS2 Eleanor Williams reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 7 MIM 611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 MAPKBP1 Eleanor Williams reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: Macia et al Am. J. Hum. Genet. 100: 323-333, 2017. PubMed: 28089251; Phenotypes: Nephronopthisis 20 MIM 6175271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 CEP83 Eleanor Williams reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 18 MIM 615862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 CEP164 Eleanor Williams reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 15 MIM 614845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 INVS Eleanor Williams reviewed gene: INVS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 2, infantile MIM 602088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 ANKS6 Eleanor Williams reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: ; Publications: Hoff et al Nature Genet. 45: 951-956, 2013. PubMed: 2379302; Phenotypes: Nephronopthisis 16 MIM 615382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 TMEM67 Eleanor Williams reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 11 MIM 613550, ?RHYNS syndrome MIM 602152, COACH syndrome, MIM 216306, ?RHYNS syndrome 602152 AR 3, COACH syndrome 216360 AR 3, Joubert syndrome 6, MIM 610688, Meckel syndrome 3, MIM 607361, {Bardet-Biedl syndrome 14, modifier of} MIM 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 DCDC2 Eleanor Williams reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: Schueler (2015) Am J Hum Genet 96, 81 PMID 25557784 ; Phenotypes: Nephronopthisis 19 MIM 616217, Sclerosing cholangitis, neonatal MIM 617394, ?Deafness, autosomal recessive 66 MIM 610212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 WDR19 Eleanor Williams reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 13 MIM 614377, Senior-Loken syndrome 8, MIM 616307, ?Cranioectodermal dysplasia 4, MIM 614378, ?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 NPHP3 Eleanor Williams reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 3 MIM 604387, Meckel syndrome 7, MIM 267010, Renal-hepatic-pancreatic dysplasia 1, MIM 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 TTC21B Eleanor Williams reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 12 MIM 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM 613819; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 NPHP1 Eleanor Williams reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronopthisis 1, juvenile MIM 256100, Senior-Loken syndrome-1 MIM 266900, Joubert syndrome 4 MIM 609583; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 NPHP4 Eleanor Williams reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: ; Publications: Mollet et al 2002 PMID: 12244321, Otto et al 2002 PMID: 12205563; Phenotypes: Nephronopthisis 4 MIM 606966, Senior-Loken syndrome 4 MIM 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 REN Eleanor Williams reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: ; Publications: Zivna et al 2009 PMID: 19664745, Gribouval et al 2005 PMID: 16116425; Phenotypes: Familial juvenile Hyperuricemic nephropathy-2 MIM 613092, Renal tubular dysgenesis MIM 267430; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.3 HNF1B Eleanor Williams reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: Edghill et al 2006 PMID: 15930087; Phenotypes: Renal cysts and diabetes syndrome MIM 137920, NIDDM MIM 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulointerstitial kidney disease v0.3 UMOD Eleanor Williams reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: Hart et al 2002 PMID: 12471200, Dahan et al 2003 PMID: 14569098; Phenotypes: Medullary cystic kidney disease 2 MIM 603860, Familial juvenile hyperuricemic nephropathy 1 MIM 162000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulointerstitial kidney disease v0.3 MUC1 Eleanor Williams reviewed gene: MUC1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: Kirby et al 2013 PMID: 23396133; Phenotypes: Medullary cystic kidney disease 1 MIM 174000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tubulointerstitial kidney disease v0.2 ADAMTS9 Eleanor Williams gene: ADAMTS9 was added
gene: ADAMTS9 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to 30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy (no OMIM number yet)
Tubulointerstitial kidney disease v0.2 GATM Eleanor Williams gene: GATM was added
gene: GATM was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: GATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Tubulointerstitial kidney disease v0.2 SEC61A1 Eleanor Williams gene: SEC61A1 was added
gene: SEC61A1 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEC61A1 were set to Familial juvenile Hyperuricemic nephropathy-4 MIM 617056
Tubulointerstitial kidney disease v0.2 DNAJB11 Eleanor Williams gene: DNAJB11 was added
gene: DNAJB11 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061
Tubulointerstitial kidney disease v0.2 XPNPEP3 Eleanor Williams gene: XPNPEP3 was added
gene: XPNPEP3 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to 20179356
Phenotypes for gene: XPNPEP3 were set to Nephronopthisis-like nephropathy 1 MIM 613159
Tubulointerstitial kidney disease v0.2 NEK8 Eleanor Williams gene: NEK8 was added
gene: NEK8 was added to Tubulointerstitial kidney disease. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NEK8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NEK8 were set to ?Nephronopthisis 9 MIM 613824
Tubulointerstitial kidney disease v0.2 ZNF423 Eleanor Williams gene: ZNF423 was added
gene: ZNF423 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ZNF423 were set to 22863007
Phenotypes for gene: ZNF423 were set to Joubert syndrome 19 MIM 614844; Nephronopthisis 14
Tubulointerstitial kidney disease v0.2 GLIS2 Eleanor Williams gene: GLIS2 was added
gene: GLIS2 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS2 were set to Nephronopthisis 7 MIM 611498
Tubulointerstitial kidney disease v0.2 MAPKBP1 Eleanor Williams gene: MAPKBP1 was added
gene: MAPKBP1 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
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 Nephronopthisis 20 MIM 6175271
Tubulointerstitial kidney disease v0.2 CEP83 Eleanor Williams gene: CEP83 was added
gene: CEP83 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP83 were set to Nephronopthisis 18 MIM 615862
Tubulointerstitial kidney disease v0.2 CEP164 Eleanor Williams gene: CEP164 was added
gene: CEP164 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP164 were set to Nephronopthisis 15 MIM 614845
Tubulointerstitial kidney disease v0.2 INVS Eleanor Williams gene: INVS was added
gene: INVS was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronopthisis 2, infantile MIM 602088
Tubulointerstitial kidney disease v0.2 ANKS6 Eleanor Williams gene: ANKS6 was added
gene: ANKS6 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKS6 were set to 2379302
Phenotypes for gene: ANKS6 were set to Nephronopthisis 16 MIM 615382
Tubulointerstitial kidney disease v0.2 TMEM67 Eleanor Williams gene: TMEM67 was added
gene: TMEM67 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to ?RHYNS syndrome MIM 602152; COACH syndrome 216360 AR 3; {Bardet-Biedl syndrome 14, modifier of} MIM 615991; ?RHYNS syndrome 602152 AR 3; COACH syndrome, MIM 216306; Joubert syndrome 6, MIM 610688; Nephronopthisis 11 MIM 613550; Meckel syndrome 3, MIM 607361
Tubulointerstitial kidney disease v0.2 DCDC2 Eleanor Williams gene: DCDC2 was added
gene: DCDC2 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCDC2 were set to 25557784
Phenotypes for gene: DCDC2 were set to Sclerosing cholangitis, neonatal MIM 617394; ?Deafness, autosomal recessive 66 MIM 610212; Nephronopthisis 19 MIM 616217
Tubulointerstitial kidney disease v0.2 WDR19 Eleanor Williams gene: WDR19 was added
gene: WDR19 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR19 were set to Nephronopthisis 13 MIM 614377; ?Cranioectodermal dysplasia 4, MIM 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376; Senior-Loken syndrome 8, MIM 616307
Tubulointerstitial kidney disease v0.2 NPHP3 Eleanor Williams gene: NPHP3 was added
gene: NPHP3 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1, MIM 208540; Meckel syndrome 7, MIM 267010; Nephronopthisis 3 MIM 604387
Tubulointerstitial kidney disease v0.2 TTC21B Eleanor Williams gene: TTC21B was added
gene: TTC21B was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TTC21B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM 613819; Nephronopthisis 12 MIM 613820
Tubulointerstitial kidney disease v0.2 NPHP1 Eleanor Williams gene: NPHP1 was added
gene: NPHP1 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4 MIM 609583; Senior-Loken syndrome-1 MIM 266900; Nephronopthisis 1, juvenile MIM 256100
Tubulointerstitial kidney disease v0.2 NPHP4 Eleanor Williams gene: NPHP4 was added
gene: NPHP4 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHP4 were set to 12244321; 12205563
Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome 4 MIM 606996; Nephronopthisis 4 MIM 606966
Tubulointerstitial kidney disease v0.2 REN Eleanor Williams gene: REN was added
gene: REN was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: REN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: REN were set to 16116425; 19664745
Phenotypes for gene: REN were set to Renal tubular dysgenesis MIM 267430; Familial juvenile Hyperuricemic nephropathy-2 MIM 613092
Tubulointerstitial kidney disease v0.2 HNF1B Eleanor Williams gene: HNF1B was added
gene: HNF1B was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF1B were set to 15930087
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome MIM 137920; NIDDM MIM 125853
Tubulointerstitial kidney disease v0.2 UMOD Eleanor Williams gene: UMOD was added
gene: UMOD was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UMOD were set to 12471200; 14569098
Phenotypes for gene: UMOD were set to Medullary cystic kidney disease 2 MIM 603860; Familial juvenile hyperuricemic nephropathy 1 MIM 162000
Mode of pathogenicity for gene: UMOD was set to Other - please provide details in the comments
Tubulointerstitial kidney disease v0.2 MUC1 Eleanor Williams gene: MUC1 was added
gene: MUC1 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: MUC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MUC1 were set to 23396133
Phenotypes for gene: MUC1 were set to Medullary cystic kidney disease 1 MIM 174000
Mode of pathogenicity for gene: MUC1 was set to Other - please provide details in the comments
Tubulointerstitial kidney disease v0.0 Ellen McDonagh Added Panel Tubulointerstitial kidney disease
Set panel types to: GMS Rare Disease