Pigmentary skin disorders
Region: ISCA-37431-Loss17q11.2 recurrent region (includes NF1) Loss
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
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 ReviewCreated: 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
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.
Region: isca-37431-loss has been classified as Green List (High Evidence).
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