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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.
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.
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.
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 CYP11B1 Arina Puzriakova Tag chimeric-gene tag was added to gene: CYP11B1.