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Neurofibromatosis Type 1

Region: ISCA-37431-Loss

17q11.2 recurrent region (includes NF1) Loss

Green List (high evidence)
Chromosome: 17
GRCh38 Position: 30780079-31937008
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

1 review

Arina Puzriakova (Genomics England Curator)

The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 1:05 p.m. | Last Modified: 16 Mar 2022, 1:05 p.m.
Panel Version: 1.27
Created: 16 Mar 2022, 1:05 p.m.
Last Modified: 16 Mar 2022, 1:05 p.m.
Panel version: 1.27

Details

ISCA ID
ISCA-37431-Loss
ISCA Region Name
17q11.2 recurrent region (includes NF1) Loss
Chromosome
17
GRCh38 Coordinates
30780079-31937008
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
60%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • 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
  • NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME
  • NF1 MICRODELETION SYNDROME
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss

History Filter Activity

16 Mar 2022, Gel status: 3

Changed GRCh38, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008. Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60.

17 Sep 2018, Gel status: 4

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-37431-Loss was added Region: ISCA-37431-Loss was added to Neurofibromatosis Type 1. 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; NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME; NF1 MICRODELETION SYNDROME; Chromosome 17q11.2 deletion syndrome, 1.4Mb