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| Extreme early-onset hypertension v1.21 | CYP11B2 |
Achchuthan Shanmugasundram changed review comment from: Autosomal recessive variants in CYP11B2 causes Hypoaldosteronism, congenital, due to CMO I deficiency (MIM #203400) and due to CMO II deficiency (MIM #610600). Patients with these disorders present with salt loss and failure to thrive in early childhood and they do not present with hypertension. Glucocorticoid-remediable aldosteronism (GRA, MIM #103900) is an autosomal-dominant disorder caused by chimeric duplication of CYP11B1 and CYP11B2 genes. These patients present with early-onset hypertension. Hence, the MOI in this should be 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' rather than 'BIALLELIC, autosomal or pseudoautosomal' as in 'Congenital adrenal hypoplasia' panel.; to: Autosomal recessive variants in CYP11B2 causes Hypoaldosteronism, congenital, due to CMO I deficiency (MIM #203400) and due to CMO II deficiency (MIM #610600). Patients with these disorders present with salt loss and failure to thrive in early childhood and they do not present with hypertension. Glucocorticoid-remediable aldosteronism (GRA, MIM #103900) is an autosomal-dominant disorder caused by chimeric duplication of CYP11B1 and CYP11B2 genes. These patients present with early-onset hypertension. Hence, the MOI in this panel should be 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' rather than 'BIALLELIC, autosomal or pseudoautosomal' as in 'Congenital adrenal hypoplasia' panel. |
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| Extreme early-onset hypertension v1.21 | CYP11B2 |
Achchuthan Shanmugasundram changed review comment from: Autosomal recessive variants in CYP11B2 causes Hypoaldosteronism, congenital, due to CMO I deficiency (MIM #203400) and due to CMO II deficiency (MIM #610600). Patients with these disorders present with salt loss and failure to thrive in early childhood and they do no present hypertension. Glucocorticoid-remediable aldosteronism (GRA, MIM #103900) is an autosomal-dominant disorder caused by chimeric duplication of CYP11B1 and CYP11B2 genes. These patients present with early-onset hypertension. Hence, the MOI in this should be 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' rather than 'BIALLELIC, autosomal or pseudoautosomal' as in 'Congenital adrenal hypoplasia' panel.; to: Autosomal recessive variants in CYP11B2 causes Hypoaldosteronism, congenital, due to CMO I deficiency (MIM #203400) and due to CMO II deficiency (MIM #610600). Patients with these disorders present with salt loss and failure to thrive in early childhood and they do not present with hypertension. Glucocorticoid-remediable aldosteronism (GRA, MIM #103900) is an autosomal-dominant disorder caused by chimeric duplication of CYP11B1 and CYP11B2 genes. These patients present with early-onset hypertension. Hence, the MOI in this should be 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' rather than 'BIALLELIC, autosomal or pseudoautosomal' as in 'Congenital adrenal hypoplasia' panel. |
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| Extreme early-onset hypertension v1.21 | CYP11B2 | Achchuthan Shanmugasundram Phenotypes for gene: CYP11B2 were changed from Aldosterone to renin ratio raised, Glucucorticoid-remediable hyperaldosteronsim to Aldosteronism, glucocorticoid-remediable, OMIM:103900; {Low renin hypertension, susceptibility to}; Aldosterone to renin ratio raised | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.20 | CYP11B2 |
Achchuthan Shanmugasundram changed review comment from: Autosomal recessive variants in CYP11B2 causes Hypoaldosteronism, congenital, due to CMO I deficiency (MIM #203400) and due to CMO II deficiency (MIM #610600). Patients with these disorders present with salt loss and failure to thrive in early childhood and they do no present hypertension. Glucocorticoid-remediable aldosteronism (GRA, MIM #103900) is an autosomal-dominant disorder caused by chimeric duplication of CYP11B1 and CYP11B2 genes. These patients present with early-onset hypertension.; to: Autosomal recessive variants in CYP11B2 causes Hypoaldosteronism, congenital, due to CMO I deficiency (MIM #203400) and due to CMO II deficiency (MIM #610600). Patients with these disorders present with salt loss and failure to thrive in early childhood and they do no present hypertension. Glucocorticoid-remediable aldosteronism (GRA, MIM #103900) is an autosomal-dominant disorder caused by chimeric duplication of CYP11B1 and CYP11B2 genes. These patients present with early-onset hypertension. Hence, the MOI in this should be 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' rather than 'BIALLELIC, autosomal or pseudoautosomal' as in 'Congenital adrenal hypoplasia' panel. |
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| Extreme early-onset hypertension v1.20 | CYP11B2 | Achchuthan Shanmugasundram reviewed gene: CYP11B2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aldosteronism, glucocorticoid-remediable, OMIM:103900, {Low renin hypertension, susceptibility to}, Aldosterone to renin ratio raised; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.20 | CYP11B1 | Arina Puzriakova Phenotypes for gene: CYP11B1 were changed from Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010; Aldosteronism, glucocorticoid-remediable, 103900; Early onset hypertension with raised urinary 18-hydroxy-steroids; steroid-sensitive. to Aldosteronism, glucocorticoid-remediable, OMIM:103900; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010; Early onset hypertension with raised urinary 18-hydroxy-steroids, steroid-sensitive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.19 | CYP11B1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Familial hyperaldosteronism characterised by hypertension is caused by chimeric fusion of CYP11B1/CYP11B2 (monoallelic to pick this up), while biallelic variants in the CYP11B1 is associated with congenital adrenal hyperplasia which also presents with early-onset moderate to severe hypertension among other features. Therefore updating MOI to 'Both mono- and biallelic'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.19 | CYP11B1 | Arina Puzriakova Mode of inheritance for gene: CYP11B1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.18 | CYP11B2 | Arina Puzriakova Tag chimeric-gene tag was added to gene: CYP11B2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.18 | CYP11B1 | Arina Puzriakova Tag chimeric-gene tag was added to gene: CYP11B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.18 | TTC21B | Eleanor Williams Phenotypes for gene: TTC21B were changed from Hypertension; focal segmental glomerulosclerosis; nephronopthisis; myopia to Hypertension; focal segmental glomerulosclerosis; nephronopthisis; myopia; Nephronophthisis 12, OMIM:613820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.17 | TTC21B | Eleanor Williams Publications for gene: TTC21B were set to 24876116; 26940125; 34957165; 34805047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.16 | TTC21B | Eleanor Williams Classified gene: TTC21B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.16 | TTC21B | Eleanor Williams Added comment: Comment on list classification: Promoting this gene to green as there are sufficient cases in which hypertension is a characteristic of the disease phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.16 | TTC21B | Eleanor Williams Gene: ttc21b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.15 | TTC21B | Eleanor Williams reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.15 | WNK1 | Arina Puzriakova Phenotypes for gene: WNK1 were changed from Neuropathy, hereditary sensory and autonomic, type II, 201300; Pseudohypoaldosteronism, type IIC, 614492 to Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300; Pseudohypoaldosteronism, type IIC, OMIM:614492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.14 | TTC21B | John Sayer edited their review of gene: TTC21B: Added comment: Careful literature review supports the notion that biallelic, often hypomorph, missense variants in TTC21B are commonly associated with early-onset hypertension and histological features of both FSGS and NPHP. Increased clinical recognition of this mixed glomerular and tubulointerstitial disease with often mild or absent features of a typical ciliopathy as well as inclusion of TTC21B on gene panels for early-onset arterial hypertension might shorten the diagnostic odyssey for patients affected by this rare tubuloglomerular kidney disease.; Changed publications to: 24876116, 26940125, 34957165, 34805047, PMID: 35289079 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.14 | TTC21B |
John Sayer gene: TTC21B was added gene: TTC21B was added to Extreme early-onset hypertension. Sources: Expert Review Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC21B were set to 24876116; 26940125; 34957165; 34805047 Phenotypes for gene: TTC21B were set to Hypertension; focal segmental glomerulosclerosis; nephronopthisis; myopia Penetrance for gene: TTC21B were set to Complete Review for gene: TTC21B was set to GREEN gene: TTC21B was marked as current diagnostic Added comment: There is growing evidence that severe hypertension is a common phenotype in patients with this gene mutation (TTC21B biallelic). Sources: Expert Review |
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| Extreme early-onset hypertension v1.14 | MTX2 | Ivone Leong Classified gene: MTX2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.14 | MTX2 | Ivone Leong Gene: mtx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.13 | MTX2 |
Ivone Leong gene: MTX2 was added gene: MTX2 was added to Extreme early-onset hypertension. Sources: Expert Review,Literature Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTX2 were set to 32917887 Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; lipodystrophy; arterial calcification; severe hypertension Review for gene: MTX2 was set to GREEN Added comment: The Genomics England Clinical Team suggested that this gene should be added to this panel as severe hypertension is a phenotype. Therefore, this gene has been given a Green rating. Review from Zornitza Stark on the Lipodystrophy - childhood onset: "Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation. Sources: Literature Zornitza Stark (Australian Genomics), 5 Oct 2020" Sources: Literature, Expert Review Created: 13 Nov 2020, 1:32 p.m. Sources: Expert Review, Literature |
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| Extreme early-onset hypertension v1.11 | Ellen McDonagh Panel types changed to Rare Disease 100K | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension v1.9 |
Ellen McDonagh List of related panels changed from to Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual |
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| Extreme early-onset hypertension | CACNA1H | Sarah Leigh classified CACNA1H as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | CACNA1H | Sarah Leigh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | AGT | Sarah Leigh classified AGT as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | Sarah Leigh promoted panel to version 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | NR3C2 | Sarah Leigh classified NR3C2 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | CYP11B2 | Sarah Leigh classified CYP11B2 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | CPS1 | Sarah Leigh marked CPS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | CPS1 | Sarah Leigh commented on CPS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | SMAD9 | Sarah Leigh marked SMAD9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | SMAD9 | Sarah Leigh commented on SMAD9 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | PNMT | Sarah Leigh marked PNMT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | PNMT | Sarah Leigh commented on PNMT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | KCNK3 | Sarah Leigh marked KCNK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | KCNK3 | Sarah Leigh commented on KCNK3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | CYP21A2 | Sarah Leigh marked CYP21A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | CAV1 | Sarah Leigh marked CAV1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | CAV1 | Sarah Leigh commented on CAV1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | AGT | Sarah Leigh marked AGT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | AGT | Sarah Leigh classified AGT as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Extreme early-onset hypertension | AGT | Sarah Leigh commented on AGT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||