Activity

Filter

Cancel
Date Panel Item Activity
25 actions
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
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
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