Genes in panel
Prev Next
Regions in panel

Intellectual disability

Region: ISCA-37486-Loss

16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss

Green List (high evidence)

Chromosome: 16
GRCh38 Position: 28811313-29035181
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

0 reviews

Details

ISCA ID
ISCA-37486-Loss
ISCA Region Name
16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss
Chromosome
16
GRCh38 Coordinates
28811313-29035181
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, imprinted status unknown
Sources
Phenotypes
  • developmental delay
  • 613444
  • obesity
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
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-37486-Loss was added Region: ISCA-37486-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37486-Loss were set to 23258348; 19966786; 20808231 Phenotypes for Region: ISCA-37486-Loss were set to developmental delay; 613444; obesity