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Hypertension and Aldosterone disorders v1.15 USP33 Bryony Thompson changed review comment from: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6).
Sources: Literature; to: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 182 early-onset hypertension cases and 55,305 controls used in BeviMed analysis. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6).
Sources: Literature
Hypertension and Aldosterone disorders v1.15 USP33 Bryony Thompson Marked gene: USP33 as ready
Hypertension and Aldosterone disorders v1.15 USP33 Bryony Thompson Gene: usp33 has been classified as Red List (Low Evidence).
Hypertension and Aldosterone disorders v1.15 USP33 Bryony Thompson gene: USP33 was added
gene: USP33 was added to Hypertension and Aldosterone disorders. Sources: Literature
Mode of inheritance for gene: USP33 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: USP33 were set to 36928819
Phenotypes for gene: USP33 were set to Renal hypertension MONDO:0001105
Review for gene: USP33 was set to AMBER
Added comment: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6).
Sources: Literature
Hypertension and Aldosterone disorders v1.14 NPR1 Zornitza Stark Marked gene: NPR1 as ready
Hypertension and Aldosterone disorders v1.14 NPR1 Zornitza Stark Gene: npr1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.14 NPR1 Zornitza Stark Classified gene: NPR1 as Green List (high evidence)
Hypertension and Aldosterone disorders v1.14 NPR1 Zornitza Stark Gene: npr1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.13 NPR1 Lilian Downie gene: NPR1 was added
gene: NPR1 was added to Hypertension and Aldosterone disorders. Sources: Literature
Mode of inheritance for gene: NPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPR1 were set to PMID: 37080586
Phenotypes for gene: NPR1 were set to Genetic hypertension MONDO:0015512
Review for gene: NPR1 was set to GREEN
Added comment: 4 sibs with systemic hypertension in the neonatal period - presenting with cardiogenic shock, with homozygous variants (consanguineous parents), parents confirmed heterozygotes. 3/4 infants had increased NT (>3.5) in utero
RT-PCR shows dramatic reduction of RNA levels
2 sibs in a second family, normal NT and pregnancy, neonatal systematic hypertension presenting with cardiogenic shock,
Sources: Literature
Hypertension and Aldosterone disorders v1.13 Zornitza Stark HPO terms changed from to Hypertension, HP:0000822; Abnormal circulating aldosterone, HP:0040085
List of related panels changed from to Hypertension; HP:0000822; Abnormal circulating aldosterone; HP:0040085
Hypertension and Aldosterone disorders v1.12 Chirag Patel Panel name changed from Renal Hypertension and Disorders of Aldosterone Metabolism to Hypertension and Aldosterone disorders
Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease; Genetic Health Queensland
Hypertension and Aldosterone disorders v1.11 HSD3B2 Zornitza Stark Marked gene: HSD3B2 as ready
Hypertension and Aldosterone disorders v1.11 HSD3B2 Zornitza Stark Gene: hsd3b2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.11 CYP21A2 Zornitza Stark Marked gene: CYP21A2 as ready
Hypertension and Aldosterone disorders v1.11 CYP21A2 Zornitza Stark Gene: cyp21a2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.11 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Hypertension and Aldosterone disorders v1.11 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.11 HSD3B2 Chirag Patel Classified gene: HSD3B2 as Green List (high evidence)
Hypertension and Aldosterone disorders v1.11 HSD3B2 Chirag Patel Gene: hsd3b2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.10 HSD3B2 Chirag Patel gene: HSD3B2 was added
gene: HSD3B2 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert list
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B2 were set to PMID: 1363812, 18252794
Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Review for gene: HSD3B2 was set to GREEN
Added comment: Established gene-disease association.
Sources: Expert list
Hypertension and Aldosterone disorders v1.9 CYP21A2 Chirag Patel Classified gene: CYP21A2 as Green List (high evidence)
Hypertension and Aldosterone disorders v1.9 CYP21A2 Chirag Patel Gene: cyp21a2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.8 CYP21A2 Chirag Patel gene: CYP21A2 was added
gene: CYP21A2 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert list
Mode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP21A2 were set to Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Review for gene: CYP21A2 was set to GREEN
Added comment: Well established gene-disease association. Beware pseudogene and structural variants make NGS data difficult to interpret.
Sources: Expert list
Hypertension and Aldosterone disorders v1.7 CYP17A1 Chirag Patel Classified gene: CYP17A1 as Green List (high evidence)
Hypertension and Aldosterone disorders v1.7 CYP17A1 Chirag Patel Gene: cyp17a1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.6 CYP17A1 Chirag Patel gene: CYP17A1 was added
gene: CYP17A1 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert list
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP17A1 were set to PMID: 2843762, 14671162, 2026124
Phenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Review for gene: CYP17A1 was set to GREEN
Added comment: More than 100 families reported.
Sources: Expert list
Hypertension and Aldosterone disorders v1.5 WNK4 Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported.

Caution: assessed as MODERATE by ClinGen. Although at least 9 individuals have been reported, all the reported variants are missense without other supportive functional or segregation data.
Hypertension and Aldosterone disorders v1.5 CYP11B2 Zornitza Stark Tag treatable tag was added to gene: CYP11B2.
Hypertension and Aldosterone disorders v1.5 CYP11B1 Zornitza Stark Tag treatable tag was added to gene: CYP11B1.
Hypertension and Aldosterone disorders v1.5 CYP11B1 Chirag Patel Classified gene: CYP11B1 as Green List (high evidence)
Hypertension and Aldosterone disorders v1.5 CYP11B1 Chirag Patel Gene: cyp11b1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v1.4 CYP11B1 Chirag Patel reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hypertension and Aldosterone disorders v1.4 WNK1 Zornitza Stark Phenotypes for gene: WNK1 were changed from to Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
Hypertension and Aldosterone disorders v1.3 WNK1 Zornitza Stark Publications for gene: WNK1 were set to
Hypertension and Aldosterone disorders v1.2 WNK1 Zornitza Stark Mode of pathogenicity for gene: WNK1 was changed from to Other
Hypertension and Aldosterone disorders v1.1 WNK1 Zornitza Stark Mode of inheritance for gene: WNK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v1.0 WNK1 Chirag Patel reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 11498583, 11498583; Phenotypes: Pseudohypoaldosteronism 2C (PHA2C); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertension and Aldosterone disorders v1.0 Zornitza Stark promoted panel to version 1.0
Hypertension and Aldosterone disorders v0.49 WNK4 Zornitza Stark Marked gene: WNK4 as ready
Hypertension and Aldosterone disorders v0.49 WNK4 Zornitza Stark Gene: wnk4 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.49 WNK4 Zornitza Stark Phenotypes for gene: WNK4 were changed from to Pseudohypoaldosteronism, type IIB, MIM# 614491
Hypertension and Aldosterone disorders v0.48 WNK4 Zornitza Stark Publications for gene: WNK4 were set to
Hypertension and Aldosterone disorders v0.47 WNK4 Zornitza Stark Mode of inheritance for gene: WNK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.46 WNK4 Zornitza Stark reviewed gene: WNK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938, 31044551; Phenotypes: Pseudohypoaldosteronism, type IIB, MIM# 614491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.46 SCNN1G Zornitza Stark Marked gene: SCNN1G as ready
Hypertension and Aldosterone disorders v0.46 SCNN1G Zornitza Stark Gene: scnn1g has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.46 SCNN1G Zornitza Stark Phenotypes for gene: SCNN1G were changed from to Liddle syndrome 2, MIM# 618114; Pseudohypoaldosteronism, type I, MIM# 264350
Hypertension and Aldosterone disorders v0.45 SCNN1G Zornitza Stark Mode of inheritance for gene: SCNN1G was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.44 SCNN1G Zornitza Stark reviewed gene: SCNN1G: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Liddle syndrome 2, MIM# 618114, Pseudohypoaldosteronism, type I, MIM# 264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.44 SCNN1B Zornitza Stark Marked gene: SCNN1B as ready
Hypertension and Aldosterone disorders v0.44 SCNN1B Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.44 SCNN1B Zornitza Stark Phenotypes for gene: SCNN1B were changed from to Liddle syndrome 1, MIM# 177200; Pseudohypoaldosteronism, type I, MIM# 264350
Hypertension and Aldosterone disorders v0.43 SCNN1B Zornitza Stark Mode of inheritance for gene: SCNN1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.42 SCNN1B Zornitza Stark reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Liddle syndrome 1, MIM# 177200, Pseudohypoaldosteronism, type I, MIM# 264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.42 KLHL3 Zornitza Stark Marked gene: KLHL3 as ready
Hypertension and Aldosterone disorders v0.42 KLHL3 Zornitza Stark Gene: klhl3 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.42 KLHL3 Zornitza Stark Phenotypes for gene: KLHL3 were changed from to Pseudohypoaldosteronism, type IID, MIM# 614495
Hypertension and Aldosterone disorders v0.41 KLHL3 Zornitza Stark Publications for gene: KLHL3 were set to
Hypertension and Aldosterone disorders v0.40 KLHL3 Zornitza Stark Mode of inheritance for gene: KLHL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.39 KLHL3 Zornitza Stark reviewed gene: KLHL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938, 22406640, 24821705, 34022862, 32462939; Phenotypes: Pseudohypoaldosteronism, type IID, MIM# 614495; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.39 KCNJ5 Zornitza Stark Marked gene: KCNJ5 as ready
Hypertension and Aldosterone disorders v0.39 KCNJ5 Zornitza Stark Gene: kcnj5 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.39 KCNJ5 Zornitza Stark Phenotypes for gene: KCNJ5 were changed from to Hyperaldosteronism, familial, type III, MIM# 613677
Hypertension and Aldosterone disorders v0.38 KCNJ5 Zornitza Stark Publications for gene: KCNJ5 were set to
Hypertension and Aldosterone disorders v0.37 KCNJ5 Zornitza Stark Mode of inheritance for gene: KCNJ5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.36 KCNJ5 Zornitza Stark reviewed gene: KCNJ5: Rating: GREEN; Mode of pathogenicity: None; Publications: 21311022, 22203740, 24420545, 24574546]; Phenotypes: Hyperaldosteronism, familial, type III, MIM# 613677; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.36 HSD11B2 Zornitza Stark Marked gene: HSD11B2 as ready
Hypertension and Aldosterone disorders v0.36 HSD11B2 Zornitza Stark Gene: hsd11b2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.36 HSD11B2 Zornitza Stark Phenotypes for gene: HSD11B2 were changed from to Apparent mineralocorticoid excess, MIM# 218030; MONDO:0009025
Hypertension and Aldosterone disorders v0.35 HSD11B2 Zornitza Stark Publications for gene: HSD11B2 were set to
Hypertension and Aldosterone disorders v0.34 HSD11B2 Zornitza Stark Mode of inheritance for gene: HSD11B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.33 HSD11B2 Zornitza Stark reviewed gene: HSD11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7670488, 9683587, 17314322; Phenotypes: Apparent mineralocorticoid excess, MIM# 218030, MONDO:0009025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.33 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Hypertension and Aldosterone disorders v0.33 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.33 CLCN2 Zornitza Stark Phenotypes for gene: CLCN2 were changed from to Hyperaldosteronism, familial, type II 605635
Hypertension and Aldosterone disorders v0.32 CLCN2 Zornitza Stark Publications for gene: CLCN2 were set to
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark changed review comment from: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.

At least 6 unrelated families reported.; to: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.

At least 6 unrelated families reported.

Note bi-allelic variants cause a different phenotype.
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark changed review comment from: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.; to: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.

At least 6 unrelated families reported.
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark edited their review of gene: CLCN2: Changed publications: 29403011, 29403012
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark commented on gene: CLCN2: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing.
Hypertension and Aldosterone disorders v0.31 CLCN2 Zornitza Stark Mode of inheritance for gene: CLCN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.30 CACNA1D Zornitza Stark Marked gene: CACNA1D as ready
Hypertension and Aldosterone disorders v0.30 CACNA1D Zornitza Stark Gene: cacna1d has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.30 CACNA1D Zornitza Stark Phenotypes for gene: CACNA1D were changed from to Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474; MONDO:0014200
Hypertension and Aldosterone disorders v0.29 CACNA1D Zornitza Stark Publications for gene: CACNA1D were set to
Hypertension and Aldosterone disorders v0.28 CACNA1D Zornitza Stark Mode of inheritance for gene: CACNA1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.27 CACNA1D Zornitza Stark reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 23913001, 32336187, 30698561; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474, MONDO:0014200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.27 CACNA1H Zornitza Stark Phenotypes for gene: CACNA1H were changed from Hyperaldosteronism, familial, type IV MIM#617027 to Hyperaldosteronism, familial, type IV MIM#617027; MONDO:0014875
Hypertension and Aldosterone disorders v0.26 CACNA1H Zornitza Stark Marked gene: CACNA1H as ready
Hypertension and Aldosterone disorders v0.26 CACNA1H Zornitza Stark Gene: cacna1h has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.26 CACNA1H Zornitza Stark Phenotypes for gene: CACNA1H were changed from to Hyperaldosteronism, familial, type IV MIM#617027
Hypertension and Aldosterone disorders v0.25 CACNA1H Zornitza Stark Publications for gene: CACNA1H were set to
Hypertension and Aldosterone disorders v0.24 CACNA1H Zornitza Stark Mode of inheritance for gene: CACNA1H was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.23 NR3C2 Zornitza Stark Marked gene: NR3C2 as ready
Hypertension and Aldosterone disorders v0.23 NR3C2 Zornitza Stark Gene: nr3c2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.23 NR3C2 Zornitza Stark Phenotypes for gene: NR3C2 were changed from to Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; MONDO:0008329
Hypertension and Aldosterone disorders v0.22 NR3C2 Zornitza Stark Publications for gene: NR3C2 were set to
Hypertension and Aldosterone disorders v0.21 NR3C2 Zornitza Stark Mode of inheritance for gene: NR3C2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.20 NR3C2 Zornitza Stark edited their review of gene: NR3C2: Changed phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735, MONDO:0008329
Hypertension and Aldosterone disorders v0.20 NR3C2 Zornitza Stark changed review comment from: Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I.

Well established gene-disease association, over 50 unrelated families reported.; to: Autosomal dominant pseudohypoaldosteronism type I is characterized by salt wasting resulting from renal unresponsiveness to mineralocorticoids. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. Some adult patients with the disorder may have elevated aldosterone levels, but no history of clinical disease. This observation suggests that only those infants whose salt homeostasis is stressed by intercurrent illness and volume depletion develop clinically recognized PHA I.

Well established gene-disease association, over 50 unrelated families reported. Most reported variants are LoF.
Hypertension and Aldosterone disorders v0.20 NR3C2 Zornitza Stark reviewed gene: NR3C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662404, 11134129, 11344206, 12788847, 16972228; Phenotypes: Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.20 CACNA1H Paul De Fazio reviewed gene: CACNA1H: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27729216, 25907736, 31126930; Phenotypes: Hyperaldosteronism, familial, type IV MIM#617027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertension and Aldosterone disorders v0.20 NR3C1 Zornitza Stark Marked gene: NR3C1 as ready
Hypertension and Aldosterone disorders v0.20 NR3C1 Zornitza Stark Gene: nr3c1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.20 NR3C1 Chirag Patel Classified gene: NR3C1 as Green List (high evidence)
Hypertension and Aldosterone disorders v0.20 NR3C1 Chirag Patel Gene: nr3c1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.19 NR3C1 Chirag Patel gene: NR3C1 was added
gene: NR3C1 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Literature
Mode of inheritance for gene: NR3C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NR3C1 were set to PubMed: 12754700, 1704018, 8445027, 31995340
Phenotypes for gene: NR3C1 were set to Glucocorticoid resistance, OMIM # 615962
Review for gene: NR3C1 was set to GREEN
Added comment: Hurley et al. (1991) identified a heterozygous missense mutation in the GCR gene (D641V) in affected members of the kindred originally reported by Vingerhoeds et al. (1976) with generalized glucocorticoid deficiency.

Karl et al. (1993) identified heterozygosity for a 4-bp deletion in the GCR gene in all 3 affected members of a Dutch kindred with glucocorticoid resistance.

Bray and Cotton (2003) stated that a total of 15 missense, 3 nonsense, 3 frameshift, 1 splice site, and 2 alternatively spliced mutations had been reported in the NR3C1 gene to be associated with glucocorticoid resistance. Sixteen polymorphisms in the gene had also been reported.
Sources: Literature
Hypertension and Aldosterone disorders v0.18 WNK1 Seb Lunke Marked gene: WNK1 as ready
Hypertension and Aldosterone disorders v0.18 WNK1 Seb Lunke Gene: wnk1 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.18 WNK1 Teresa Zhao reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32790646; Phenotypes: Pseudohypoaldosteronism type IIC (MIM#614492), Hereditary sensory and autonomic type II neuropathy (MIM#201300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertension and Aldosterone disorders v0.18 CYP11B2 Zornitza Stark Marked gene: CYP11B2 as ready
Hypertension and Aldosterone disorders v0.18 CYP11B2 Zornitza Stark Gene: cyp11b2 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.18 CYP11B2 Zornitza Stark Phenotypes for gene: CYP11B2 were changed from to Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)
Hypertension and Aldosterone disorders v0.17 CYP11B2 Zornitza Stark Publications for gene: CYP11B2 were set to
Hypertension and Aldosterone disorders v0.16 CYP11B2 Zornitza Stark Mode of inheritance for gene: CYP11B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.15 CYP11B2 Paul De Fazio reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8439335, 9360501, 15240589, 9814506, 12788848, 8772616; Phenotypes: Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600).; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertension and Aldosterone disorders v0.15 CUL3 Zornitza Stark Marked gene: CUL3 as ready
Hypertension and Aldosterone disorders v0.15 CUL3 Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.15 CUL3 Zornitza Stark Phenotypes for gene: CUL3 were changed from Pseudohypoaldosteronism, type IIE, MIM# 614496 to Pseudohypoaldosteronism, type IIE, MIM# 614496
Hypertension and Aldosterone disorders v0.15 CUL3 Zornitza Stark Phenotypes for gene: CUL3 were changed from to Pseudohypoaldosteronism, type IIE, MIM# 614496
Hypertension and Aldosterone disorders v0.14 CUL3 Zornitza Stark Publications for gene: CUL3 were set to
Hypertension and Aldosterone disorders v0.13 CUL3 Zornitza Stark Mode of inheritance for gene: CUL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.12 CUL3 Zornitza Stark reviewed gene: CUL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938; Phenotypes: Pseudohypoaldosteronism, type IIE, MIM# 614496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.12 SCNN1A Zornitza Stark Marked gene: SCNN1A as ready
Hypertension and Aldosterone disorders v0.12 SCNN1A Zornitza Stark Gene: scnn1a has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.12 SCNN1A Zornitza Stark Phenotypes for gene: SCNN1A were changed from to ?Liddle syndrome 3 618126 AD; Bronchiectasis with or without elevated sweat chloride 2 613021 AD; Pseudohypoaldosteronism, type I 264350 AR.
Hypertension and Aldosterone disorders v0.11 SCNN1A Zornitza Stark Publications for gene: SCNN1A were set to
Hypertension and Aldosterone disorders v0.10 SCNN1A Zornitza Stark Mode of pathogenicity for gene: SCNN1A was changed from to Other
Hypertension and Aldosterone disorders v0.9 SCNN1A Zornitza Stark Mode of inheritance for gene: SCNN1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertension and Aldosterone disorders v0.8 SCNN1A Michelle Torres reviewed gene: SCNN1A: Rating: ; Mode of pathogenicity: Other; Publications: 31301676, 28710092; Phenotypes: ?Liddle syndrome 3 618126 AD, Bronchiectasis with or without elevated sweat chloride 2 613021 AD, Pseudohypoaldosteronism, type I 264350 AR.; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertension and Aldosterone disorders v0.8 CYP11B1 Zornitza Stark Classified gene: CYP11B1 as Amber List (moderate evidence)
Hypertension and Aldosterone disorders v0.8 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Amber List (Moderate Evidence).
Hypertension and Aldosterone disorders v0.8 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
Hypertension and Aldosterone disorders v0.8 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Amber List (Moderate Evidence).
Hypertension and Aldosterone disorders v0.8 CYP11B1 Zornitza Stark Classified gene: CYP11B1 as Amber List (moderate evidence)
Hypertension and Aldosterone disorders v0.8 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Amber List (Moderate Evidence).
Hypertension and Aldosterone disorders v0.7 CYP11B1 Zornitza Stark gene: CYP11B1 was added
gene: CYP11B1 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Expert Review
Mode of inheritance for gene: CYP11B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CYP11B1 were set to 1731223; 29703198
Phenotypes for gene: CYP11B1 were set to Aldosteronism, glucocorticoid-remediable, MIM# 103900
Review for gene: CYP11B1 was set to AMBER
Added comment: Chimeric protein caused by structural rearrangement. Bi-allelic variants cause CAH.
Sources: Expert Review
Hypertension and Aldosterone disorders v0.6 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; KidGen; Rare Disease
Hypertension and Aldosterone disorders v0.5 Zornitza Stark removed gene:STX16 from the panel
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Marked gene: PDE3A as ready
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Gene: pde3a has been classified as Green List (High Evidence).
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome, MIM# 112410 to Hypertension and brachydactyly syndrome, MIM# 112410
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Phenotypes for gene: PDE3A were changed from Hypertension and brachydactyly syndrome, MIM# 112410 to Hypertension and brachydactyly syndrome, MIM# 112410
Hypertension and Aldosterone disorders v0.4 PDE3A Zornitza Stark Phenotypes for gene: PDE3A were changed from to Hypertension and brachydactyly syndrome, MIM# 112410
Hypertension and Aldosterone disorders v0.3 PDE3A Zornitza Stark Publications for gene: PDE3A were set to 25961942
Hypertension and Aldosterone disorders v0.3 PDE3A Zornitza Stark Publications for gene: PDE3A were set to
Hypertension and Aldosterone disorders v0.3 PDE3A Zornitza Stark Mode of inheritance for gene: PDE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.2 PDE3A Zornitza Stark reviewed gene: PDE3A: Rating: ; Mode of pathogenicity: None; Publications: 25961942; Phenotypes: Hypertension and brachydactyly syndrome, MIM# 112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.2 CLCN2 Zornitza Stark reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperaldosteronism, familial, type II 605635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertension and Aldosterone disorders v0.2 Zornitza Stark Panel name changed from Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS to Renal Hypertension and Disorders of Aldosterone Metabolism
Panel types changed to Victorian Clinical Genetics Services; KidGen
Hypertension and Aldosterone disorders v0.1 Zornitza Stark Panel name changed from Renal hypertension and disorders of aldosterone metabolism_KidGen to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS
Hypertension and Aldosterone disorders v0.0 WNK4 Zornitza Stark gene: WNK4 was added
gene: WNK4 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: WNK4 was set to Unknown
Hypertension and Aldosterone disorders v0.0 WNK1 Zornitza Stark gene: WNK1 was added
gene: WNK1 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: WNK1 was set to Unknown
Hypertension and Aldosterone disorders v0.0 STX16 Zornitza Stark gene: STX16 was added
gene: STX16 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: STX16 was set to Unknown
Hypertension and Aldosterone disorders v0.0 SCNN1G Zornitza Stark gene: SCNN1G was added
gene: SCNN1G was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: SCNN1G was set to Unknown
Hypertension and Aldosterone disorders v0.0 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: SCNN1B was set to Unknown
Hypertension and Aldosterone disorders v0.0 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: SCNN1A was set to Unknown
Hypertension and Aldosterone disorders v0.0 PDE3A Zornitza Stark gene: PDE3A was added
gene: PDE3A was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: PDE3A was set to Unknown
Hypertension and Aldosterone disorders v0.0 NR3C2 Zornitza Stark gene: NR3C2 was added
gene: NR3C2 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: NR3C2 was set to Unknown
Hypertension and Aldosterone disorders v0.0 KLHL3 Zornitza Stark gene: KLHL3 was added
gene: KLHL3 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: KLHL3 was set to Unknown
Hypertension and Aldosterone disorders v0.0 KCNJ5 Zornitza Stark gene: KCNJ5 was added
gene: KCNJ5 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: KCNJ5 was set to Unknown
Hypertension and Aldosterone disorders v0.0 HSD11B2 Zornitza Stark gene: HSD11B2 was added
gene: HSD11B2 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: HSD11B2 was set to Unknown
Hypertension and Aldosterone disorders v0.0 CYP11B2 Zornitza Stark gene: CYP11B2 was added
gene: CYP11B2 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: CYP11B2 was set to Unknown
Hypertension and Aldosterone disorders v0.0 CUL3 Zornitza Stark gene: CUL3 was added
gene: CUL3 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: CUL3 was set to Unknown
Hypertension and Aldosterone disorders v0.0 CLCN2 Zornitza Stark gene: CLCN2 was added
gene: CLCN2 was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: CLCN2 was set to Unknown
Hypertension and Aldosterone disorders v0.0 CACNA1H Zornitza Stark gene: CACNA1H was added
gene: CACNA1H was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: CACNA1H was set to Unknown
Hypertension and Aldosterone disorders v0.0 CACNA1D Zornitza Stark gene: CACNA1D was added
gene: CACNA1D was added to Renal hypertension and disorders of aldosterone metabolism_KidGen. Sources: Expert Review Green,KidGen_AldoHypertension v38.1.0
Mode of inheritance for gene: CACNA1D was set to Unknown
Hypertension and Aldosterone disorders v0.0 Zornitza Stark Added panel Renal hypertension and disorders of aldosterone metabolism_KidGen