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Intellectual disability

Region: ISCA-37431-Gain

17q11.2 recurrent region (includes NF1) Gain

Green List (high evidence)

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

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Details

ISCA ID
ISCA-37431-Gain
ISCA Region Name
17q11.2 recurrent region (includes NF1) Gain
Chromosome
17
GRCh38 Coordinates
30835804-31891648
Haploinsufficiency Score
Triplosensitivity Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb
  • DD/ID, facial dysmorphisms, and seizures
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

17 Sep 2018, Gel status: 4

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-37431-Gain was added Region: ISCA-37431-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37431-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37431-Gain were set to 25205021; 22241097; 18183042 Phenotypes for Region: ISCA-37431-Gain were set to early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism; Chromosome 17q11.2 deletion syndrome, 1.4Mb; DD/ID, facial dysmorphisms, and seizures