PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
18 actions
Additional findings_Adult v1.120 CALM3 Zornitza Stark gene: CALM3 was added
gene: CALM3 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CALM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CALM3 were set to Ventricular tachycardia, catecholaminergic polymorphic 6, MIM# 618782; Long QT syndrome 16, MIM# 618782
Review for gene: CALM3 was set to GREEN
Added comment: MODERATE actionability in adults by ClinGen.

Cardiology surveillance and consideration of medical and surgical treatment (beta blockers and ICD for CPVT).
Sources: Expert list
Additional findings_Adult v1.118 CALM2 Zornitza Stark gene: CALM2 was added
gene: CALM2 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CALM2 were set to Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990; Long QT syndrome 15 616249
Review for gene: CALM2 was set to GREEN
Added comment: MODERATE actionability by ClinGen.

Cardiac surveillance with consideration for medical and surgical treatment (beta blockers, ICD for CPVT).
Sources: Expert list
Additional findings_Adult v1.117 CALM1 Zornitza Stark changed review comment from: MODERATE actionability by ClinGen in adults.

Cardiac surveillance recommended with consideration for medical and if required, surgical intervention (beta-blockers, ICD).
Sources: Expert list; to: MODERATE actionability by ClinGen in adults.

Cardiac surveillance recommended with consideration for medical and if required, surgical intervention (beta-blockers, ICD for CPVT).
Sources: Expert list
Additional findings_Adult v1.69 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Additional findings_Adult v1.69 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Additional findings_Adult v1.69 CPT2 Zornitza Stark Classified gene: CPT2 as Green List (high evidence)
Additional findings_Adult v1.69 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Additional findings_Adult v1.68 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced, MIM# 255110
Review for gene: CPT2 was set to GREEN
Added comment: Variable age of onset and severity. Adult form tends to be myopathic.

The recommendation for treatment of CPT II deficiency is to follow current treatment for long-chain FAO disorders:
- Reduce the amount of long-chain dietary fat (<20%) while covering the need for essential fatty acids
- Provide carnitine to convert potentially toxic long-chain acyl-CoAs to acylcarnitines
- Provide a large fraction of calories as carbohydrates (70%) to reduce body fat utilization and prevent hypoglycaemia
- Provide approximately one third of calories as even-chain medium chain triglycerides (MCT)
Sources: Expert list
Additional findings_Adult v1.61 CP Zornitza Stark Marked gene: CP as ready
Additional findings_Adult v1.61 CP Zornitza Stark Gene: cp has been classified as Green List (High Evidence).
Additional findings_Adult v1.61 CP Zornitza Stark Classified gene: CP as Green List (high evidence)
Additional findings_Adult v1.61 CP Zornitza Stark Gene: cp has been classified as Green List (High Evidence).
Additional findings_Adult v1.60 CP Zornitza Stark gene: CP was added
gene: CP was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Aceruloplasminaemia, MIM#604290
Review for gene: CP was set to GREEN
Added comment: Progressive disorder of iron accumulation in the brain and viscera. Potentially amenable to treatment with iron chelating agents.

MODERATE actionability by ClinGen.
Sources: Expert list
Additional findings_Adult v1.20 CPS1 Zornitza Stark Marked gene: CPS1 as ready
Additional findings_Adult v1.20 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.20 CPS1 Zornitza Stark Classified gene: CPS1 as Green List (high evidence)
Additional findings_Adult v1.20 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Additional findings_Adult v1.19 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Additional findings_Adult. Sources: Expert list
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency MIM#237300
Review for gene: CPS1 was set to GREEN
Added comment: Can rarely present in adulthood, including in the postpartum period with coma.

ACMG factsheet relating to management of adults: https://www.acmg.net/PDFLibrary/CPS-I-Deficiency-Transition.pdf.

Management aims to maintain stable metabolic control and to reduce or eliminate chronic complications. Treatment includes medications to promote waste nitrogen excretion (nitrogen scavengers such as sodium benzoate, sodium phenylacetate, sodium phenylbutyrate, and glycerol phenylbutyrate); low-protein diet; and supplementation with arginine or citrulline, essential nutrients, and essential amino acids.

Given the risk of acute metabolic decompensation during surgery and general anaesthesia, elective surgery should only be carried out in centers able and prepared to deal with hyperammonemic decompensations. Specialised management is also required during pregnancy.

Steroids and valproate are to be avoided.
Sources: Expert list