Genes in panel
Prev Next
Regions in panel

Intellectual disability

Region: ISCA-37400-Gain

16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain

Green List (high evidence)

Chromosome: 16
GRCh38 Position: 29638675-30188534
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-37400-Gain
ISCA Region Name
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain
Chromosome
16
GRCh38 Coordinates
29638675-30188534
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
  • 614671
  • intellectual disability
  • delayed development
  • autism
  • specific deficits in speech or language
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-37400-Gain was added Region: ISCA-37400-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37400-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37400-Gain were set to 21841781; 18184952; 21731881 Phenotypes for Region: ISCA-37400-Gain were set to 614671; intellectual disability; delayed development; autism; specific deficits in speech or language