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Intellectual disability

Region: ISCA-37400-Loss

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

Green List (high evidence)

Chromosome: 16
GRCh38 Position: 29638675-30188534
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

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Details

ISCA ID
ISCA-37400-Loss
ISCA Region Name
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss
Chromosome
16
GRCh38 Coordinates
29638675-30188534
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
  • seizures
  • intellectual disability
  • Chiari malformations
  • cerebellar ectopia
  • 611913
  • mental retardation
  • Macrocephaly
  • developmental delay
  • autism spectrum disorder (ASD)
  • vertebral anomalies
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-37400-Loss was added Region: ISCA-37400-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37400-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37400-Loss were set to 21841781; 18184952; 20301775 Phenotypes for Region: ISCA-37400-Loss were set to seizures; intellectual disability; Chiari malformations; cerebellar ectopia; 611913; mental retardation; Macrocephaly; developmental delay; autism spectrum disorder (ASD); vertebral anomalies