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Renal Tubulopathies and related disorders v1.17 TRPM7 Zornitza Stark Deleted their comment
Renal Tubulopathies and related disorders v1.17 TRPM7 Zornitza Stark edited their review of gene: TRPM7: Added comment: PMID 37188671: mouse model investigating role in HypoMg and seizure-related death.; Changed publications: 35561741, 35712613, 39099563, 37188671
Renal Tubulopathies and related disorders v1.17 TRPM7 Zornitza Stark Marked gene: TRPM7 as ready
Renal Tubulopathies and related disorders v1.17 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.17 TRPM7 Zornitza Stark Classified gene: TRPM7 as Green List (high evidence)
Renal Tubulopathies and related disorders v1.17 TRPM7 Zornitza Stark Gene: trpm7 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.16 TRPM7 Zornitza Stark changed review comment from: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.
PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.
PMID 35712613: de novo missense variant in an individual with hypoMg.
PMID 39099563: three affected individuals with missense variants, all de novo.
Sources: Expert Review; to: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.
PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.
PMID 35712613: de novo missense variant in an individual with hypoMg.
PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.
Sources: Expert Review
Renal Tubulopathies and related disorders v1.16 TRPM7 Zornitza Stark edited their review of gene: TRPM7: Changed rating: GREEN
Renal Tubulopathies and related disorders v1.16 TRPM7 Zornitza Stark gene: TRPM7 was added
gene: TRPM7 was added to Renal Tubulopathies and related disorders. Sources: Expert Review
Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPM7 were set to 35561741; 35712613; 39099563
Phenotypes for gene: TRPM7 were set to Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related
Added comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.
PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.
PMID 35712613: de novo missense variant in an individual with hypoMg.
PMID 39099563: three affected individuals with missense variants, all de novo.
Sources: Expert Review
Renal Tubulopathies and related disorders v1.15 SLC36A2 Bryony Thompson Classified gene: SLC36A2 as Amber List (moderate evidence)
Renal Tubulopathies and related disorders v1.15 SLC36A2 Bryony Thompson Added comment: Comment on list classification: Biochemical phenotypes without adverse clinical consequences
Renal Tubulopathies and related disorders v1.15 SLC36A2 Bryony Thompson Gene: slc36a2 has been classified as Amber List (Moderate Evidence).
Renal Tubulopathies and related disorders v1.14 MUT Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Associated with interstitial nephritis and chronic kidney failure.
Renal Tubulopathies and related disorders v1.14 MUT Zornitza Stark Marked gene: MUT as ready
Renal Tubulopathies and related disorders v1.14 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.14 SLC6A20 Bryony Thompson Marked gene: SLC6A20 as ready
Renal Tubulopathies and related disorders v1.14 SLC6A20 Bryony Thompson Gene: slc6a20 has been classified as Red List (Low Evidence).
Renal Tubulopathies and related disorders v1.14 SLC6A20 Bryony Thompson Publications for gene: SLC6A20 were set to 24816252; 19033659
Renal Tubulopathies and related disorders v1.13 SLC6A20 Bryony Thompson Classified gene: SLC6A20 as Red List (low evidence)
Renal Tubulopathies and related disorders v1.13 SLC6A20 Bryony Thompson Gene: slc6a20 has been classified as Red List (Low Evidence).
Renal Tubulopathies and related disorders v1.12 SLC6A20 Bryony Thompson reviewed gene: SLC6A20: Rating: RED; Mode of pathogenicity: None; Publications: 19033659, 36820062, 24816252; Phenotypes: Hyperglycinuria MONDO:0007677; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulopathies and related disorders v1.12 TRPV5 Zornitza Stark Marked gene: TRPV5 as ready
Renal Tubulopathies and related disorders v1.12 TRPV5 Zornitza Stark Gene: trpv5 has been classified as Red List (Low Evidence).
Renal Tubulopathies and related disorders v1.12 TRPV5 Zornitza Stark gene: TRPV5 was added
gene: TRPV5 was added to Renal Tubulopathies and related disorders. Sources: Literature
Mode of inheritance for gene: TRPV5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV5 were set to 38528055; 14679186
Phenotypes for gene: TRPV5 were set to TRPV5-related hypercalciuria (MONDO:0009550)
Review for gene: TRPV5 was set to RED
Added comment: Not a well-established gene-disease association. Has only been reported in one consanguineous family.

PMID: 38528055
3 individuals from the same family affected with hypercalciuria.
Biallelic Met598Val variant was identified in the proband and his two affect sibs

Functional assay using WT and mutant plasmid vectors were transfected into HEK293T cells. The assay showed that the mutant vector had a non-functional TRPV5 channel as compared to the WT however no positive control was used.

PMID: 14679186
TRPV5 knockout mice model was used to assess whether the abolishment of TRPV5 led to a disruption in Ca2+ handling. The effects of the disruption in Ca2+ handling resulted in bone abnormalities in the mice and is likely the cause of idiopathic hypercalciuria.
Sources: Literature
Renal Tubulopathies and related disorders v1.11 EHHADH Bryony Thompson Marked gene: EHHADH as ready
Renal Tubulopathies and related disorders v1.11 EHHADH Bryony Thompson Gene: ehhadh has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.11 EHHADH Bryony Thompson Publications for gene: EHHADH were set to 24401050
Renal Tubulopathies and related disorders v1.10 EHHADH Bryony Thompson Classified gene: EHHADH as Green List (high evidence)
Renal Tubulopathies and related disorders v1.10 EHHADH Bryony Thompson Gene: ehhadh has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.9 EHHADH Bryony Thompson reviewed gene: EHHADH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24401050, 35738466, 38310177; Phenotypes: Fanconi renotubular syndrome 3 MONDO:0014275; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulopathies and related disorders v1.9 EGF Zornitza Stark Marked gene: EGF as ready
Renal Tubulopathies and related disorders v1.9 EGF Zornitza Stark Added comment: Comment when marking as ready: LIMITED by ClinGen.
Renal Tubulopathies and related disorders v1.9 EGF Zornitza Stark Gene: egf has been classified as Red List (Low Evidence).
Renal Tubulopathies and related disorders v1.9 OXGR1 Zornitza Stark Phenotypes for gene: OXGR1 were changed from Nephrolithiasis/nephrocalcinosis, MONDO:0008171, OXGR1-related to Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374
Renal Tubulopathies and related disorders v1.8 OXGR1 Zornitza Stark reviewed gene: OXGR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulopathies and related disorders v1.8 AVP Zornitza Stark Marked gene: AVP as ready
Renal Tubulopathies and related disorders v1.8 AVP Zornitza Stark Gene: avp has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.8 AVP Zornitza Stark Phenotypes for gene: AVP were changed from Diabetes insipidus, neurohypophyseal to Diabetes insipidus, neurohypophyseal MIM#125700
Renal Tubulopathies and related disorders v1.7 AVP Zornitza Stark Classified gene: AVP as Green List (high evidence)
Renal Tubulopathies and related disorders v1.7 AVP Zornitza Stark Gene: avp has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.6 AVP Ella Wilkins gene: AVP was added
gene: AVP was added to Renal Tubulopathies and related disorders. Sources: Expert list
Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal
Review for gene: AVP was set to GREEN
Added comment: Included due to phenotypic overlap with nephrogenic DI.
Sources: Expert list
Renal Tubulopathies and related disorders v1.6 RRAGD Zornitza Stark Marked gene: RRAGD as ready
Renal Tubulopathies and related disorders v1.6 RRAGD Zornitza Stark Gene: rragd has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.6 RRAGD Zornitza Stark Classified gene: RRAGD as Green List (high evidence)
Renal Tubulopathies and related disorders v1.6 RRAGD Zornitza Stark Gene: rragd has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.5 RRAGD Zornitza Stark gene: RRAGD was added
gene: RRAGD was added to Renal Tubulopathies and related disorders. Sources: Literature
Mode of inheritance for gene: RRAGD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAGD were set to 34607910
Phenotypes for gene: RRAGD were set to Inherited renal tubular disease, MONDO:0015962, RRAGD-related; dilated cardiomyopathy; hypomagnesaemia; renal salt-wasting; nephrocalcinosis
Review for gene: RRAGD was set to GREEN
Added comment: PMID: 34607910; Schlingmann, KP. et al. (2021) J Am Soc Nephrol. 32(11):2885-2899.
Six missense variants in RRAGD identified in eight children (some early infant onset) from unrelated families. The variants were recurrent or affecting the same amino acid, i.e., p.S76L, S76W, p.T97P, p.P119L, p.P119R and p.I221K note: these are absent in gnomAD v2.1.1, and are very highly conserved residues. All variants are located in the N-terminal G-domain and affect sequence motifs involved in nucleotide binding
The children had a tubulopathy characterised by hypomagnesemia, hypokalaemia, salt wasting, and nephrocalcinosis, and six had dilated cardiomyopathy.
Most occurred de novo. Two were familial. One family with two affected siblings showed low level mosaicism in the mother.
In vitro studies using transfected HEK293 cells showed increased binding to RPTOR and MTOR.
Sources: Literature
Renal Tubulopathies and related disorders v1.4 Zornitza Stark HPO terms changed from to Renal tubular dysfunction, HP:0000124; Nephrolithiasis, HP:0000787; Abnormal circulating aldosterone, HP:0040085
List of related panels changed from to Renal tubular dysfunction; HP:0000124; Nephrolithiasis; HP:0000787; Abnormal circulating aldosterone; HP:0040085
Renal Tubulopathies and related disorders v1.3 SLC6A6 Zornitza Stark Marked gene: SLC6A6 as ready
Renal Tubulopathies and related disorders v1.3 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Red List (Low Evidence).
Renal Tubulopathies and related disorders v1.3 SLC6A6 Zornitza Stark gene: SLC6A6 was added
gene: SLC6A6 was added to Renal Tubulopathies and related disorders. Sources: Literature
Mode of inheritance for gene: SLC6A6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC6A6 were set to 35115415; 21170874; 32660969
Phenotypes for gene: SLC6A6 were set to Primary hyperoxaluria, MONDO:0002474, SLC26A6-related
Review for gene: SLC6A6 was set to RED
Added comment: Cornière et al. 2022 (PMID: 35115415) identified a single family with a heterozygous missense VUS (c.1519C>T/p.R507W) in the SLC26A6 gene. However, the variant was found in 5 out of 280 674 alleles reported in gnomAD (Europeans and South Asians). In vitro studies showed that the variant affects both SLC26A6 transport activity and membrane surface expression, in turn reducing Cl− dependant oxalate transport. Cotransfection studies indicated a dominant-negative effect on WT. Slc26a6 null mice similarly displayed hyperoxalemia and hyperoxaluria which were caused by defective intestinal back-secretion of dietary oxalate (PMID: 21170874; 32660969)
Sources: Literature
Renal Tubulopathies and related disorders v1.2 OXGR1 Sarah Pantaleo edited their review of gene: OXGR1: Changed phenotypes: Nephrolithiasis/nephrocalcinosis, MONDO:0008171, OXGR1-related, MONDO:0001567, OXGR1-related
Renal Tubulopathies and related disorders v1.2 OXGR1 Zornitza Stark Marked gene: OXGR1 as ready
Renal Tubulopathies and related disorders v1.2 OXGR1 Zornitza Stark Gene: oxgr1 has been classified as Amber List (Moderate Evidence).
Renal Tubulopathies and related disorders v1.2 OXGR1 Zornitza Stark Phenotypes for gene: OXGR1 were changed from Nephrolithiasis/nephrocalcinosis to Nephrolithiasis/nephrocalcinosis, MONDO:0008171, OXGR1-related
Renal Tubulopathies and related disorders v1.1 OXGR1 Zornitza Stark Classified gene: OXGR1 as Amber List (moderate evidence)
Renal Tubulopathies and related disorders v1.1 OXGR1 Zornitza Stark Gene: oxgr1 has been classified as Amber List (Moderate Evidence).
Renal Tubulopathies and related disorders v1.0 OXGR1 Sarah Pantaleo gene: OXGR1 was added
gene: OXGR1 was added to Renal Tubulopathies and related disorders. Sources: Literature
Mode of inheritance for gene: OXGR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OXGR1 were set to PMID:35671463
Phenotypes for gene: OXGR1 were set to Nephrolithiasis/nephrocalcinosis
Penetrance for gene: OXGR1 were set to unknown
Review for gene: OXGR1 was set to AMBER
Added comment: Candidate disease gene for human calcium oxalate nephrolithiasis.

Performed exome sequencing and directed sequencing of the OXGR1 locus in a worldwide nephrolithiasis/nephrocalcinosis (NL/NC) cohort, and putatively deleterious rare OXGR1 variants were functionally characterised.

A heterozygous OXGR1 missense variant (c.371T>G; p.Leu124Arg) co-segregated with calcium oxalate NL and/or NC disease in an autosomal dominant inheritance pattern within a multi-generational family with five affected individuals.

Interrogation of the OXGR1 locus in 1,107 additional NL/NC families identified five additional deleterious dominant variants in five families with calcium oxalate NL/NC. Rare, potentially deleterious OXGR1 variants were enriched in NL/NC subjects relative to ExAC controls. Four missense variants and one frameshift variant.

Four of five NL/NC-associated missense variants revealed impaired AKG-dependent calcium ion uptake, demonstrating loss of function.

Rare, dominant loss-of-function OXGR1 variants are associated with recurrent calcium oxalate NL/NC disease. Six potentially deleterious variants were identified in six of 1,108 NL/NC families (0.54%).

Limitations: only probands were able to be recruited for four of six families. In the future, it will be important to determine whether any of the affected family members share the identified OXGR1 variant. They also observe OXGR1 variants in 0.16% of ExAC subjects (selected on the basis of the absence of paediatric disease).
Sources: Literature
Renal Tubulopathies and related disorders v1.0 SLC9A3R1 Zornitza Stark Marked gene: SLC9A3R1 as ready
Renal Tubulopathies and related disorders v1.0 SLC9A3R1 Zornitza Stark Gene: slc9a3r1 has been classified as Red List (Low Evidence).
Renal Tubulopathies and related disorders v1.0 SLC9A3R1 Zornitza Stark Tag refuted tag was added to gene: SLC9A3R1.
Renal Tubulopathies and related disorders v1.0 AP2S1 Zornitza Stark Marked gene: AP2S1 as ready
Renal Tubulopathies and related disorders v1.0 AP2S1 Zornitza Stark Gene: ap2s1 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 AMMECR1 Zornitza Stark Marked gene: AMMECR1 as ready
Renal Tubulopathies and related disorders v1.0 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 ALPL Zornitza Stark Marked gene: ALPL as ready
Renal Tubulopathies and related disorders v1.0 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 AIRE Zornitza Stark Marked gene: AIRE as ready
Renal Tubulopathies and related disorders v1.0 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 AGXT Zornitza Stark Marked gene: AGXT as ready
Renal Tubulopathies and related disorders v1.0 AGXT Zornitza Stark Gene: agxt has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v1.0 Zornitza Stark promoted panel to version 1.0
Renal Tubulopathies and related disorders v0.18 Chirag Patel Panel status changed from internal to public
Renal Tubulopathies and related disorders v0.17 SLC3A1 Chirag Patel reviewed gene: SLC3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25964309; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.17 SLC6A19 Chirag Patel reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15286788; Phenotypes: Hartnup disorder, MIM# 234500, Hyperglycinuria, MIM# 138500, Iminoglycinuria, MIM# 242600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.17 SLC4A4 Chirag Patel reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29914390, 10545938, 11274232, 35260236, 33439394; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278, hemiplegic migraine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.17 SLC36A2 Chirag Patel Classified gene: SLC36A2 as Green List (high evidence)
Renal Tubulopathies and related disorders v0.17 SLC36A2 Chirag Patel Gene: slc36a2 has been classified as Green List (High Evidence).
Renal Tubulopathies and related disorders v0.16 SLC36A2 Chirag Patel reviewed gene: SLC36A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19033659, 26141664, 27604308; Phenotypes: Hyperglycinuria MIM#138500, Iminoglycinuria, digenic MIM#242600, Disorders of amino acid transport; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.16 SLC1A1 Chirag Patel reviewed gene: SLC1A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21123949; Phenotypes: Dicarboxylic aminoaciduria, MIM# 222730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.16 SLC2A2 Chirag Patel reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome, MIM #227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.16 SLC7A9 Chirag Patel reviewed gene: SLC7A9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10471498; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.16 SCN4A Chirag Patel reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 8385748, 11591859; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulopathies and related disorders v0.16 GLA Chirag Patel reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28613767, 33673160; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Renal Tubulopathies and related disorders v0.15 CACNA1S Chirag Patel reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11591859; Phenotypes: Hypokalemic periodic paralysis, type 1, MIM# 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Tubulopathies and related disorders v0.15 CA2 Chirag Patel reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34624559, 33555497, 12566520, 7627193; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v0.4 SLC9A3R1 Zornitza Stark gene: SLC9A3R1 was added
gene: SLC9A3R1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Red
Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC9A3R1 were set to 18784102
Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Renal Tubulopathies and related disorders v0.4 SLC26A1 Zornitza Stark gene: SLC26A1 was added
gene: SLC26A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Red
Mode of inheritance for gene: SLC26A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC26A1 were set to 27125215; 20160351; 30383413; 27210743
Phenotypes for gene: SLC26A1 were set to Nephrolithiasis, calcium oxalate, MIM#167030
Renal Tubulopathies and related disorders v0.4 EGFR Zornitza Stark gene: EGFR was added
gene: EGFR was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Red
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGFR were set to 24691054
Phenotypes for gene: EGFR were set to Inflammatory skin and bowel disease, neonatal, 2; OMIM # 616069
Renal Tubulopathies and related disorders v0.4 EGF Zornitza Stark gene: EGF was added
gene: EGF was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Red
Mode of inheritance for gene: EGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EGF were set to 17671655
Phenotypes for gene: EGF were set to Hypomagnesemia 4, renal, MIM#611718
Renal Tubulopathies and related disorders v0.4 ATP6V1C2 Zornitza Stark gene: ATP6V1C2 was added
gene: ATP6V1C2 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Red
Mode of inheritance for gene: ATP6V1C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1C2 were set to 31959358
Phenotypes for gene: ATP6V1C2 were set to Distal renal tubular acidosis
Renal Tubulopathies and related disorders v0.4 SLC36A2 Zornitza Stark gene: SLC36A2 was added
gene: SLC36A2 was added to Renal Tubulopathies and related disorders. Sources: Literature,Victorian Clinical Genetics Services,Expert Review Amber
Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC36A2 were set to 26141664; 19033659; 27604308
Phenotypes for gene: SLC36A2 were set to Iminoglycinuria, digenic MIM#242600; Hyperglycinuria MIM#138500; Disorders of amino acid transport
Renal Tubulopathies and related disorders v0.4 SLC1A1 Zornitza Stark gene: SLC1A1 was added
gene: SLC1A1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Amber
Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A1 were set to 21123949
Phenotypes for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM# 222730
Renal Tubulopathies and related disorders v0.4 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF6 were set to 27466185
Phenotypes for gene: NDUFAF6 were set to Fanconi renotubular syndrome 5, MIM# 618913
Renal Tubulopathies and related disorders v0.4 KL Zornitza Stark gene: KL was added
gene: KL was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Amber
Mode of inheritance for gene: KL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KL were set to 17710231; 31013726; 9363890
Phenotypes for gene: KL were set to Hyperphosphatemia; Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994
Renal Tubulopathies and related disorders v0.4 FXYD2 Zornitza Stark gene: FXYD2 was added
gene: FXYD2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Amber
Mode of inheritance for gene: FXYD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FXYD2 were set to 17980699; 18448590; 12763862; 25765846; 27014088; 11062458
Phenotypes for gene: FXYD2 were set to Renal hypomagnesemia 2 MONDO:0007937
Renal Tubulopathies and related disorders v0.4 EHHADH Zornitza Stark gene: EHHADH was added
gene: EHHADH was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: EHHADH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EHHADH were set to 24401050
Phenotypes for gene: EHHADH were set to Fanconi renotubular syndrome 3, MIM#615605
Renal Tubulopathies and related disorders v0.4 CLCNKA Zornitza Stark gene: CLCNKA was added
gene: CLCNKA was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,KidGen_Tubulopathies v38.1.0
Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCNKA were set to 18310267; 15044642
Phenotypes for gene: CLCNKA were set to Bartter syndrome, type 4b, digenic; OMIM #613090
Renal Tubulopathies and related disorders v0.4 ADCY10 Zornitza Stark gene: ADCY10 was added
gene: ADCY10 was added to Renal Tubulopathies and related disorders. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ADCY10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY10 were set to 11932268
Phenotypes for gene: ADCY10 were set to Hypercalciuria, absorptive, susceptibility to, MIM#143870
Renal Tubulopathies and related disorders v0.4 XDH Zornitza Stark gene: XDH was added
gene: XDH was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XDH were set to 32071838
Phenotypes for gene: XDH were set to Xanthinuria, type I (MIM#278300)
Renal Tubulopathies and related disorders v0.4 WNK4 Zornitza Stark gene: WNK4 was added
gene: WNK4 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: WNK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNK4 were set to 31044551; 22266938
Phenotypes for gene: WNK4 were set to Pseudohypoaldosteronism, type IIB, MIM# 614491
Renal Tubulopathies and related disorders v0.4 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: WNK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNK1 were set to 11498583; 32790646
Phenotypes for gene: WNK1 were set to Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
Renal Tubulopathies and related disorders v0.4 WDR72 Zornitza Stark gene: WDR72 was added
gene: WDR72 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR72 were set to 30028803; 30779877
Phenotypes for gene: WDR72 were set to Amelogenesis imperfecta, type IIA3, MIM# 613211; Distal RTA
Renal Tubulopathies and related disorders v0.4 VPS33B Zornitza Stark gene: VPS33B was added
gene: VPS33B was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33B were set to 31777725; 31240160; 24415890; 15052268
Phenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Renal Tubulopathies and related disorders v0.4 VIPAS39 Zornitza Stark gene: VIPAS39 was added
gene: VIPAS39 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VIPAS39 were set to 20190753; 35151346
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Renal Tubulopathies and related disorders v0.4 VDR Zornitza Stark gene: VDR was added
gene: VDR was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VDR were set to 17970811; 9005998; 2849209
Phenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA, MIM# 277440
Renal Tubulopathies and related disorders v0.4 UMOD Zornitza Stark gene: UMOD was added
gene: UMOD was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UMOD were set to 12471200; 12629136
Phenotypes for gene: UMOD were set to Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000
Renal Tubulopathies and related disorders v0.4 TRPM6 Zornitza Stark gene: TRPM6 was added
gene: TRPM6 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPM6 were set to 21669885
Phenotypes for gene: TRPM6 were set to Hypomagnesaemia 1, intestinal (MIM#602014)
Renal Tubulopathies and related disorders v0.4 TBCE Zornitza Stark gene: TBCE was added
gene: TBCE was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to 27666369
Phenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410
Renal Tubulopathies and related disorders v0.4 STX16 Zornitza Stark gene: STX16 was added
gene: STX16 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: STX16 were set to 27338644; 15579741; 14561710; 24438374
Phenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB, MIM#603233
Renal Tubulopathies and related disorders v0.4 STRADA Zornitza Stark gene: STRADA was added
gene: STRADA was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STRADA were set to 30311510, 28688840, 27170158, 17522105
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy; OMIM #611087
Renal Tubulopathies and related disorders v0.4 SLC7A9 Zornitza Stark gene: SLC7A9 was added
gene: SLC7A9 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC7A9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC7A9 were set to 10471498
Phenotypes for gene: SLC7A9 were set to Cystinuria, MIM# 220100
Renal Tubulopathies and related disorders v0.4 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC7A7 were set to 10080182; 18716612
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, MIM# 222700
Renal Tubulopathies and related disorders v0.4 SLC6A20 Zornitza Stark gene: SLC6A20 was added
gene: SLC6A20 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC6A20 were set to 24816252; 19033659
Phenotypes for gene: SLC6A20 were set to Hyperglycinuria, MIM# 138500
Renal Tubulopathies and related disorders v0.4 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert list,Expert Review Green
Mode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A19 were set to 15286788
Phenotypes for gene: SLC6A19 were set to Hyperglycinuria, MIM# 138500; Hartnup disorder, MIM# 234500; Iminoglycinuria, MIM# 242600
Renal Tubulopathies and related disorders v0.4 SLC5A2 Zornitza Stark gene: SLC5A2 was added
gene: SLC5A2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SLC5A2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC5A2 were set to 21165652; 12436245; 26376857
Phenotypes for gene: SLC5A2 were set to Renal glucosuria, MIM# 233100
Renal Tubulopathies and related disorders v0.4 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A4 were set to 29914390; 10545938; 11274232; 35260236; 33439394
Phenotypes for gene: SLC4A4 were set to Hemiplegic migraine; Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278
Renal Tubulopathies and related disorders v0.4 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC4A1 were set to 10926824; 9312167; 9854053; 9600966
Phenotypes for gene: SLC4A1 were set to Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590; MONDO:0012700; MONDO:0008368; Distal renal tubular acidosis 1, MIM# 179800
Renal Tubulopathies and related disorders v0.4 SLC3A1 Zornitza Stark gene: SLC3A1 was added
gene: SLC3A1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC3A1 were set to 25964309
Phenotypes for gene: SLC3A1 were set to Cystinuria, MIM# 220100
Renal Tubulopathies and related disorders v0.4 SLC34A3 Zornitza Stark gene: SLC34A3 was added
gene: SLC34A3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC34A3 were set to 32524022
Phenotypes for gene: SLC34A3 were set to Hypophosphataemic rickets with hypercalciuria, (MIM#241530)
Renal Tubulopathies and related disorders v0.4 SLC34A1 Zornitza Stark gene: SLC34A1 was added
gene: SLC34A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC34A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC34A1 were set to 33099630; 32216560; 31188746; 30943683; 26047794; 33516786; 30778725; 12324554; 32866123
Phenotypes for gene: SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286; Hypercalcaemia, infantile, 2 MIM#616963
Renal Tubulopathies and related disorders v0.4 SLC2A9 Zornitza Stark gene: SLC2A9 was added
gene: SLC2A9 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC2A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SLC2A9 were set to 19926891; 25966807; 21256783; 19026395; 21810765
Phenotypes for gene: SLC2A9 were set to Hypouricaemia, renal, 2, MIM# 612076
Renal Tubulopathies and related disorders v0.4 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to 22145468; 30950137
Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, MIM# 227810
Renal Tubulopathies and related disorders v0.4 SLC22A12 Zornitza Stark gene: SLC22A12 was added
gene: SLC22A12 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A12 were set to 34756726; 34412930; 26821810; 34829836; 14655203
Phenotypes for gene: SLC22A12 were set to Hypouricemia, renal, MIM# 220150, MONDO:0020728
Renal Tubulopathies and related disorders v0.4 SLC12A3 Zornitza Stark gene: SLC12A3 was added
gene: SLC12A3 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A3 were set to 8528245; 11102542
Phenotypes for gene: SLC12A3 were set to Gitelman syndrome, MIM# 263800
Renal Tubulopathies and related disorders v0.4 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A1 were set to 8640224, 9355073, 28095294
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, OMIM #601678
Renal Tubulopathies and related disorders v0.4 SCNN1G Zornitza Stark gene: SCNN1G was added
gene: SCNN1G was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: SCNN1G was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1G were set to 22207244; 31655555; 28484659; 30801930
Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I, MIM# 264350; Liddle syndrome 2, MIM# 618114
Renal Tubulopathies and related disorders v0.4 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: SCNN1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1B were set to 8589714
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, MIM# 264350; Liddle syndrome 1, MIM# 177200
Renal Tubulopathies and related disorders v0.4 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1A were set to 28710092; 31301676
Phenotypes for gene: SCNN1A were set to Bronchiectasis with or without elevated sweat chloride 2 613021 AD; Pseudohypoaldosteronism, type I 264350 AR.; ?Liddle syndrome 3 618126 AD
Renal Tubulopathies and related disorders v0.4 SCN4A Zornitza Stark gene: SCN4A was added
gene: SCN4A was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCN4A were set to 34671263; 11591859; 8385748
Phenotypes for gene: SCN4A were set to Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Myasthenic syndrome, congenital, 16, MIM# 614198; Hypokalemic periodic paralysis, type 2, MIM# 613345; Paramyotonia congenita , MIM#168300; Hyperkalemic periodic paralysis, type 2, MIM# 170500
Renal Tubulopathies and related disorders v0.4 SARS2 Zornitza Stark gene: SARS2 was added
gene: SARS2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS2 were set to 35790048; 28236339; 36041817; 34570399
Phenotypes for gene: SARS2 were set to neurodevelopmental disorder MONDO#070009, SARS1-related
Renal Tubulopathies and related disorders v0.4 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRM2B were set to 32827185; 24741716
Phenotypes for gene: RRM2B were set to Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Renal Tubulopathies and related disorders v0.4 RMND1 Zornitza Stark gene: RMND1 was added
gene: RMND1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMND1 were set to 18835491; 23022099; 25604853; 23022098; 26395190
Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11 MIM#614922
Renal Tubulopathies and related disorders v0.4 RET Zornitza Stark gene: RET was added
gene: RET was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RET were set to 8099202; 7906866
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, MIM# 162300; Multiple endocrine neoplasia IIA, MIM# 171400
Renal Tubulopathies and related disorders v0.4 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PTH1R were set to 7701349; 17164305; 8855805; 15525660; 19061984
Phenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400; Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Chondrodysplasia, Blomstrand type MIM#215045
Renal Tubulopathies and related disorders v0.4 PTH Zornitza Stark gene: PTH was added
gene: PTH was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: PTH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PTH were set to 2212001, 1302009, 10523031, 35165722, 32421798
Phenotypes for gene: PTH were set to Hypoparathyroidism, familial isolated 1, MIM# 146200
Renal Tubulopathies and related disorders v0.4 PHEX Zornitza Stark gene: PHEX was added
gene: PHEX was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
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)
Publications for gene: PHEX were set to 31065622
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant; OMIM #307800
Renal Tubulopathies and related disorders v0.4 PDE3A Zornitza Stark gene: PDE3A was added
gene: PDE3A was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to 25961942
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, MIM# 112410
Renal Tubulopathies and related disorders v0.4 PCBD1 Zornitza Stark gene: PCBD1 was added
gene: PCBD1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCBD1 were set to 24848070; 24204001
Phenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Renal Tubulopathies and related disorders v0.4 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: OCRL 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: OCRL were set to 19773212, 27625797
Phenotypes for gene: OCRL were set to Dent disease 2, MIM #300555; Lowe syndrome, MIM# 309000
Renal Tubulopathies and related disorders v0.4 NR3C2 Zornitza Stark gene: NR3C2 was added
gene: NR3C2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR3C2 were set to 11134129; 11344206; 9662404; 16972228; 12788847
Phenotypes for gene: NR3C2 were set to Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; MONDO:0008329
Renal Tubulopathies and related disorders v0.4 NR3C1 Zornitza Stark gene: NR3C1 was added
gene: NR3C1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: NR3C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR3C1 were set to 12754700, 1704018, 8445027, 31995340
Phenotypes for gene: NR3C1 were set to Glucocorticoid resistance, OMIM # 615962
Renal Tubulopathies and related disorders v0.4 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to 1977311; 11528502; 12948746
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, MIM# 251000
Renal Tubulopathies and related disorders v0.4 MOCOS Zornitza Stark gene: MOCOS was added
gene: MOCOS was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: MOCOS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCOS were set to 17368066; 34356852; 11302742; 32073534; 14624414; 27919260; 25967871; 30758870
Phenotypes for gene: MOCOS were set to Xanthinuria type II, MIM#603592
Renal Tubulopathies and related disorders v0.4 MEN1 Zornitza Stark gene: MEN1 was added
gene: MEN1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEN1 were set to 31797261, 14985373
Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100
Renal Tubulopathies and related disorders v0.4 MAGED2 Zornitza Stark gene: MAGED2 was added
gene: MAGED2 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: MAGED2 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: MAGED2 were set to 34895150; 35668994; 27120771
Phenotypes for gene: MAGED2 were set to Bartter syndrome, type 5, antenatal, transient, MIM# 300971
Renal Tubulopathies and related disorders v0.4 LCAT Zornitza Stark gene: LCAT was added
gene: LCAT was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCAT were set to 6624548; 30720493
Phenotypes for gene: LCAT were set to Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120
Renal Tubulopathies and related disorders v0.4 KLHL3 Zornitza Stark gene: KLHL3 was added
gene: KLHL3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KLHL3 were set to 24821705; 34022862; 22406640; 22266938; 32462939
Phenotypes for gene: KLHL3 were set to Pseudohypoaldosteronism, type IID, MIM# 614495
Renal Tubulopathies and related disorders v0.4 KCNJ5 Zornitza Stark gene: KCNJ5 was added
gene: KCNJ5 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ5 were set to 24574546; 22203740; 24420545; 21311022
Phenotypes for gene: KCNJ5 were set to Hyperaldosteronism, familial, type III, MIM# 613677
Renal Tubulopathies and related disorders v0.4 KCNJ16 Zornitza Stark gene: KCNJ16 was added
gene: KCNJ16 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ16 were set to 33811157; 33840812
Phenotypes for gene: KCNJ16 were set to deafness; Renal tubulopathy; Inherited renal tubular disease, MONDO:0015962, KCNJ16-related
Renal Tubulopathies and related disorders v0.4 KCNJ10 Zornitza Stark gene: KCNJ10 was added
gene: KCNJ10 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ10 were set to 21849804; 19420365; 19289823; 11466414
Phenotypes for gene: KCNJ10 were set to SESAME syndrome, MIM# 612780
Renal Tubulopathies and related disorders v0.4 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ1 were set to 19096086; 12086641; 8841184; 9580661; 12122007; 7635463
Phenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, MIM#241200
Renal Tubulopathies and related disorders v0.4 KCNA1 Zornitza Stark gene: KCNA1 was added
gene: KCNA1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNA1 were set to 32316562; 11026449
Phenotypes for gene: KCNA1 were set to Epilepsy, MONDO:0005027, KCNA1-related; Episodic ataxia/myokymia syndrome, MIM# 160120
Renal Tubulopathies and related disorders v0.4 HSD3B2 Zornitza Stark gene: HSD3B2 was added
gene: HSD3B2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B2 were set to 1363812, 18252794
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Renal Tubulopathies and related disorders v0.4 HSD11B2 Zornitza Stark gene: HSD11B2 was added
gene: HSD11B2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: HSD11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD11B2 were set to 7670488; 17314322; 9683587
Phenotypes for gene: HSD11B2 were set to MONDO:0009025; Apparent mineralocorticoid excess, MIM# 218030
Renal Tubulopathies and related disorders v0.4 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HPRT1 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: HPRT1 were set to 20176575
Phenotypes for gene: HPRT1 were set to HPRT-related gout (MIM# 300323); Lesch-Nyhan syndrome (MIM# 300322)
Renal Tubulopathies and related disorders v0.4 HOGA1 Zornitza Stark gene: HOGA1 was added
gene: HOGA1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOGA1 were set to 21896830; 20797690; 22391140
Phenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III MIM#613616
Renal Tubulopathies and related disorders v0.4 HNF4A Zornitza Stark gene: HNF4A was added
gene: HNF4A was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF4A were set to 31875549; 30005691; 28458902; 24285859; 22802087
Phenotypes for gene: HNF4A were set to MODY, type I, OMIM # 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026
Renal Tubulopathies and related disorders v0.4 HNF1B Zornitza Stark gene: HNF1B was added
gene: HNF1B was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF1B were set to 27234911
Phenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM#137920
Renal Tubulopathies and related disorders v0.4 GRHPR Zornitza Stark gene: GRHPR was added
gene: GRHPR was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRHPR were set to 11030416; 24116921; 10484776
Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II, MIM# 260000; MONDO:0009824
Renal Tubulopathies and related disorders v0.4 GNAS Zornitza Stark gene: GNAS was added
gene: GNAS was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: GNAS were set to 15331575
Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ic (612462) AD; Pituitary adenoma 3, multiple types, somatic (617686); Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Osseous heteroplasia, progressive (166350) AD; Pseudopseudohypoparathyroidism (612463)
Renal Tubulopathies and related disorders v0.4 GNA11 Zornitza Stark gene: GNA11 was added
gene: GNA11 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNA11 were set to 27334330; 23802536; 23802516; 26818911; 24823460
Phenotypes for gene: GNA11 were set to Hypocalciuric hypercalcemia, type II MIM#145981; Hypocalcemia, autosomal dominant 2 MIM#615361
Renal Tubulopathies and related disorders v0.4 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
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)
Publications for gene: GLA were set to 8878432; 30681346; 31613176
Phenotypes for gene: GLA were set to Fabry disease (MIM# 301500)
Renal Tubulopathies and related disorders v0.4 GCM2 Zornitza Stark gene: GCM2 was added
gene: GCM2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: GCM2 were set to 27745835, 20190276, 34967908, 35038313
Phenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883
Renal Tubulopathies and related disorders v0.4 GATM Zornitza Stark gene: GATM was added
gene: GATM was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,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 Fanconi renotubular syndrome 1, MIM# 134600
Renal Tubulopathies and related disorders v0.4 GATA3 Zornitza Stark gene: GATA3 was added
gene: GATA3 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA3 were set to 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255
Renal Tubulopathies and related disorders v0.4 GALNT3 Zornitza Stark gene: GALNT3 was added
gene: GALNT3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNT3 were set to 20358599; 32125652; 15133511
Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Renal Tubulopathies and related disorders v0.4 FOXI1 Zornitza Stark gene: FOXI1 was added
gene: FOXI1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXI1 were set to 12642503; 29242249; 9843211
Phenotypes for gene: FOXI1 were set to autosomal recessive distal renal tubular acidosis MONDO:0018440
Renal Tubulopathies and related disorders v0.4 FGF23 Zornitza Stark gene: FGF23 was added
gene: FGF23 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FGF23 were set to 25378588; 34444516; 16151858; 16030159; 15590700; 11062477; 14966565
Phenotypes for gene: FGF23 were set to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
Renal Tubulopathies and related disorders v0.4 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20C were set to 32833257; 19250384; 20825432; 33676444; 32299476
Phenotypes for gene: FAM20C were set to MONDO:0009821; Raine syndrome, MIM# 259775
Renal Tubulopathies and related disorders v0.4 FAM20A Zornitza Stark gene: FAM20A was added
gene: FAM20A was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20A were set to 24196488; 23697977; 23434854; 23468644; 25827751; 24756937; 21549343; 24259279; 21990045; 26502894
Phenotypes for gene: FAM20A were set to Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690
Renal Tubulopathies and related disorders v0.4 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM111A were set to 33010201; 32996714; 23684011; 32765931
Phenotypes for gene: FAM111A were set to autosomal dominant Kenny-Caffey syndrome MONDO:0007478
Renal Tubulopathies and related disorders v0.4 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 8318997; 8364576; 8253378; 1401056; 25681080
Phenotypes for gene: FAH were set to Tyrosinemia type I MONDO:0010161
Renal Tubulopathies and related disorders v0.4 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ENPP1 were set to 15605415; 20016754; 12881724; 20137772; 20137773; 33005041; 35220637; 28964717; 24075184; 26617416; 32598042
Phenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1, MIM# 208000; Cole disease, MIM# 615522; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Renal Tubulopathies and related disorders v0.4 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMP1 were set to 32920683; 17033621; 17033625
Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets MIM#241520
Renal Tubulopathies and related disorders v0.4 CYP2R1 Zornitza Stark gene: CYP2R1 was added
gene: CYP2R1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 28548312; 15128933
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Renal Tubulopathies and related disorders v0.4 CYP27B1 Zornitza Stark gene: CYP27B1 was added
gene: CYP27B1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27B1 were set to 27473561; 34492747; 12050193; 9486994; 33823104; 9415400
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I MIM#264700
Renal Tubulopathies and related disorders v0.4 CYP24A1 Zornitza Stark gene: CYP24A1 was added
gene: CYP24A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP24A1 were set to 21675912; 33186763; 32743688; 33516786; 32866123; 22047572
Phenotypes for gene: CYP24A1 were set to Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739
Renal Tubulopathies and related disorders v0.4 CYP21A2 Zornitza Stark gene: CYP21A2 was added
gene: CYP21A2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP21A2 were set to 11397897; 12930931; 12915679
Phenotypes for gene: CYP21A2 were set to Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
Renal Tubulopathies and related disorders v0.4 CYP17A1 Zornitza Stark gene: CYP17A1 was added
gene: CYP17A1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP17A1 were set to 2843762, 14671162, 2026124
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Renal Tubulopathies and related disorders v0.4 CYP11B2 Zornitza Stark gene: CYP11B2 was added
gene: CYP11B2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP11B2 were set to 9360501; 9814506; 12788848; 8439335; 8772616; 15240589
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)
Renal Tubulopathies and related disorders v0.4 CYP11B1 Zornitza Stark gene: CYP11B1 was added
gene: CYP11B1 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: CYP11B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYP11B1 were set to 29703198; 1731223
Phenotypes for gene: CYP11B1 were set to Aldosteronism, glucocorticoid-remediable, MIM# 103900
Renal Tubulopathies and related disorders v0.4 CUL3 Zornitza Stark gene: CUL3 was added
gene: CUL3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL3 were set to 22266938
Phenotypes for gene: CUL3 were set to Pseudohypoaldosteronism, type IIE, MIM# 614496
Renal Tubulopathies and related disorders v0.4 CTNS Zornitza Stark gene: CTNS was added
gene: CTNS was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to 20301574, 9537412, 31068690
Phenotypes for gene: CTNS were set to Cystinosis, nephropathic MIM#219800
Renal Tubulopathies and related disorders v0.4 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPT2 were set to 11477613; 12410208; 8358442; 8651281
Phenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal 608836; CPT II deficiency, infantile 600649; CPT II deficiency, myopathic, stress-induced 255110
Renal Tubulopathies and related disorders v0.4 CNNM2 Zornitza Stark gene: CNNM2 was added
gene: CNNM2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
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
Publications for gene: CNNM2 were set to 35170241; 34604137
Phenotypes for gene: CNNM2 were set to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418
Renal Tubulopathies and related disorders v0.4 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 22422540; 27530400; 17033971
Phenotypes for gene: CLDN19 were set to Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190
Renal Tubulopathies and related disorders v0.4 CLDN16 Zornitza Stark gene: CLDN16 was added
gene: CLDN16 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN16 were set to 16501001; 32869508; 10878661; 26426912
Phenotypes for gene: CLDN16 were set to amelogenesis imperfecta MONDO#0019507, CLDN16-related; Hypomagnesemia 3, renal MIM#248250
Renal Tubulopathies and related disorders v0.4 CLDN10 Zornitza Stark gene: CLDN10 was added
gene: CLDN10 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green
Mode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN10 were set to 28686597
Phenotypes for gene: CLDN10 were set to HELIX syndrome, MIM#617671
Renal Tubulopathies and related disorders v0.4 CLCNKB Zornitza Stark gene: CLCNKB was added
gene: CLCNKB was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCNKB were set to 18310267; 15044642; 9326936
Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 3, MIM# 607364; Bartter syndrome, type 4b, digenic, MIM# 613090
Renal Tubulopathies and related disorders v0.4 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CLCN5 were set to 28580211; 8559248, 9596078
Phenotypes for gene: CLCN5 were set to Dent disease, MIM#300009; Nephrolithiasis, type I, MIM#310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Hypophosphatemic rickets, MIM#300554
Renal Tubulopathies and related disorders v0.4 CLCN2 Zornitza Stark gene: CLCN2 was added
gene: CLCN2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CLCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLCN2 were set to 29403012; 29403011
Phenotypes for gene: CLCN2 were set to Hyperaldosteronism, familial, type II 605635
Renal Tubulopathies and related disorders v0.4 CDKN1B Zornitza Stark gene: CDKN1B was added
gene: CDKN1B was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDKN1B were set to 24819502, 17030811, 23555276
Phenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Renal Tubulopathies and related disorders v0.4 CDC73 Zornitza Stark gene: CDC73 was added
gene: CDC73 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC73 were set to 12434154
Phenotypes for gene: CDC73 were set to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
Renal Tubulopathies and related disorders v0.4 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CASR were set to 30760291; 8813042; 27234911
Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198; Hypocalciuric hypercalcemia, type I, MIM# 145980
Renal Tubulopathies and related disorders v0.4 CACNA1S Zornitza Stark gene: CACNA1S was added
gene: CACNA1S was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1S were set to 11591859; 28012042
Phenotypes for gene: CACNA1S were set to Hypokalemic periodic paralysis, type 1, MIM# 170400
Renal Tubulopathies and related disorders v0.4 CACNA1H Zornitza Stark gene: CACNA1H was added
gene: CACNA1H was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1H were set to 25907736; 31126930; 27729216
Phenotypes for gene: CACNA1H were set to MONDO:0014875; Hyperaldosteronism, familial, type IV MIM#617027
Renal Tubulopathies and related disorders v0.4 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green
Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1D were set to 23913001; 32336187; 30698561
Phenotypes for gene: CACNA1D were set to MONDO:0014200; Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
Renal Tubulopathies and related disorders v0.4 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA2 were set to 34624559; 12566520; 33555497; 7627193
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Renal Tubulopathies and related disorders v0.4 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSND were set to 21269598; 30174009; 11687798; 12574213; 27234911
Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, MIM# 602522
Renal Tubulopathies and related disorders v0.4 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 26563427; 17314340; 24172246
Phenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type MIM#112400; Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358
Renal Tubulopathies and related disorders v0.4 AVPR2 Zornitza Stark gene: AVPR2 was added
gene: AVPR2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
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)
Publications for gene: AVPR2 were set to 9127330; 1356229; 20301356; 27156763; 15872203
Phenotypes for gene: AVPR2 were set to Nephrogenic syndrome of inappropriate antidiuresis 300539; Diabetes insipidus, nephrogenic 304800
Renal Tubulopathies and related disorders v0.4 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1B1 were set to 12414817; 9916796; 18798332; 16611712
Phenotypes for gene: ATP6V1B1 were set to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Renal Tubulopathies and related disorders v0.4 ATP6V0A4 Zornitza Stark gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V0A4 were set to 10973252; 12414817
Phenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, MIM#602722
Renal Tubulopathies and related disorders v0.4 ATP1A1 Zornitza Stark gene: ATP1A1 was added
gene: ATP1A1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD, OMIM #618036; Hypomagnesemia, seizures, and mental retardation 2, OMIM #618314
Renal Tubulopathies and related disorders v0.4 AQP2 Zornitza Stark gene: AQP2 was added
gene: AQP2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AQP2 were set to 7537761; 11536078; 9649557; 20301356; 27156763; 7524315
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic MIM#125800
Renal Tubulopathies and related disorders v0.4 APRT Zornitza Stark gene: APRT was added
gene: APRT was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APRT were set to 1353080; 2227934; 3680503; 7915931
Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency, MIM#614723
Renal Tubulopathies and related disorders v0.4 AP2S1 Zornitza Stark gene: AP2S1 was added
gene: AP2S1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AP2S1 were set to 33729479; 3204769; 23222959; 29479578; 33168530; 31723423
Phenotypes for gene: AP2S1 were set to Hypocalciuric hypercalcaemia, type III, MIM# 600740; MONDO:0010926
Renal Tubulopathies and related disorders v0.4 AMMECR1 Zornitza Stark gene: AMMECR1 was added
gene: AMMECR1 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AMMECR1 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: AMMECR1 were set to 28089922; 27811305; 29193635
Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990
Renal Tubulopathies and related disorders v0.4 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ALPL were set to 23688511; 19500388
Phenotypes for gene: ALPL were set to Hypophosphatasia, childhood, OMIM #241510; Odontohypophosphatasia, OMIM #146300; Hypophosphatasia, adult, OMIM # 146300; Hypophosphatasia, infantile, OMIM #241500
Renal Tubulopathies and related disorders v0.4 AIRE Zornitza Stark gene: AIRE was added
gene: AIRE was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: AIRE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AIRE were set to 35521792
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300
Renal Tubulopathies and related disorders v0.4 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGXT were set to 10453743; 2039493; 1703535; 19479957
Phenotypes for gene: AGXT were set to MONDO:0009823; Hyperoxaluria, primary, type 1, MIM# 259900
Renal Tubulopathies and related disorders v0.1 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; KidGen; Genetic Health Queensland; Royal Melbourne Hospital
Renal Tubulopathies and related disorders v0.0 Chirag Patel Added panel Renal Tubulopathies and related disorders