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Pigmentary skin disorders

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

2 reviews

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: 1.46
Created: 16 Mar 2022, 1:05 p.m.
Last Modified: 16 Mar 2022, 1:05 p.m.
Panel version: 1.46

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with members of the Skin Specialist Group at the Webex call on 25.04.19, it was agreed that genes associated with RASopathies should be included on this panel. Therefore added to panel as a Green region.
Sources: ClinGen, Expert Review
Created: 17 Sep 2019, 5:51 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Created: 17 Sep 2019, 5:51 p.m.

Panel version: 0.14

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
  • Expert Review
  • 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 Triplosensitivity Score, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008. Triplosensitivity Score for ISCA-37431-Loss was changed from None to . Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60.

17 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Region: isca-37431-loss has been classified as Green List (High Evidence).

17 Sep 2019, Gel status: 1

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

Catherine Snow (Genomics England)

Region: ISCA-37431-Loss was added Region: ISCA-37431-Loss was added to Pigmentary skin disorders. Sources: ClinGen,Expert Review 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 Review for Region: ISCA-37431-Loss was set to GREEN