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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |