Genes in panel
Prev Next
Regions in panel

Intellectual disability

Region: ISCA-37392-Gain

7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain

Green List (high evidence)

Chromosome: 7
GRCh38 Position: 73330451-74728175
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain

0 reviews

Details

ISCA ID
ISCA-37392-Gain
ISCA Region Name
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain
Chromosome
7
GRCh38 Coordinates
73330451-74728175
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
Phenotypes
  • intellectual disability
  • 609757
  • behavior problems
  • abnormal gait and station
  • cardiovascular disease
  • phonologic disorders
  • distinctive facial features
  • neurologic abnormalities
  • speech sound disorders
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

7 Sep 2018, Gel status: 4

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-37392-Gain was added Region: ISCA-37392-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37392-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37392-Gain were set to 26610320 Phenotypes for Region: ISCA-37392-Gain were set to intellectual disability; 609757; behavior problems; abnormal gait and station; cardiovascular disease; phonologic disorders; distinctive facial features; neurologic abnormalities; speech sound disorders