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Cardiomyopathies - including childhood onset

Region: ISCA-37431-Loss

17q11.2 recurrent region (includes NF1) Loss

Red List (low evidence)

Chromosome: 17
GRCh38 Position: 30835804-31891648
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Submitted on behalf of the GMS Cardiology specialist group. Demoted from Amber to Red as the group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:52 p.m. | Last Modified: 2 Dec 2019, 3:52 p.m.
Panel Version: 0.14

James Eden (Manchester)

I don't know

Cardiovascular malformations were detected in 11 out of 61 patients with NF1 microdeletions (18%), including atrial septal defect, ventricular septal defect, patent ductus arteriosus, pulmonary stenosis, dilated aortic valve, hypertrophic cardiomyopathy, mitral valve prolapse (PMID 14729829 table 1). These cardiovascular malformations were overrepresented in the NF1 microdeletion cohort in comparison to NF1 non-deletion patients, which suggested that the deleted region contained candidate genes that result in these symptoms - specifically CENTA2 and JJAZ1 due to higher levels of expression in heart tissue.
Created: 26 Nov 2019, 11:23 a.m. | Last Modified: 26 Nov 2019, 11:23 a.m.
Panel Version: 0.13

Mode of inheritance
Other

Phenotypes
Chromosome 17q11.2 deletion syndrome 1.4Mb, 613675

Publications

Details

ISCA ID
ISCA-37431-Loss
ISCA Region Name
17q11.2 recurrent region (includes NF1) Loss
Chromosome
17
GRCh38 Coordinates
30835804-31891648
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • dysmorphic features, cardiac anomalies and mental retardation
  • 613675
  • variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors
  • NF1 MICRODELETION SYNDROME
  • NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss

History Filter Activity

2 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Region: isca-37431-loss has been classified as Red List (Low Evidence).

16 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Region: ISCA-37431-Loss was added Region: ISCA-37431-Loss was added to Cardiomyopathies - including childhood onset. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37431-Loss were set to dysmorphic features, cardiac anomalies and mental retardation; 613675; variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors; NF1 MICRODELETION SYNDROME; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb