Common deletion and duplication syndromes
Region: ISCA-37431-LossChromosome 17q11.2 deletion syndrome, NF1 deletion syndrome
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
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Approximately 5 to 20% of all individuals with NF1 have a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions. The 'NF1 microdeletion syndrome' is often characterised by a more severe phenotype than that observed in the majority of NF1 patients. In particular, there is often variable facial dysmorphism, intellectual disability, an excessive number of early-onset neurofibromas, and an increased risk for malignant peripheral nerve sheath tumours.
Sources: Expert listCreated: 4 Dec 2020, 7:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome
Publications
Details
- ISCA ID
- ISCA-37431-Loss
- ISCA Region Name
- Chromosome 17q11.2 deletion syndrome, NF1 deletion syndrome
- 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, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Chromosome 17q11.2 deletion syndrome, MIM#613675
- NF1 deletion syndrome
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37431-loss has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37431-loss has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: ISCA-37431-Loss was added Region: ISCA-37431-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37431-Loss were set to 12660952; 14729829 Phenotypes for Region: ISCA-37431-Loss were set to Chromosome 17q11.2 deletion syndrome, MIM#613675; NF1 deletion syndrome Review for Region: ISCA-37431-Loss was set to GREEN