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Intellectual disability

Region: ISCA-37433-Gain

22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain

Green List (high evidence)

Chromosome: 22
GRCh38 Position: 18924718-20299686
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-37433-Gain
ISCA Region Name
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain
Chromosome
22
GRCh38 Coordinates
18924718-20299686
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
  • 608363
  • Chromosome 22q11.2 microduplication syndrome
  • dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement
  • delayed psychomotor development, growth retardation, and/or hypotonia
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

11 Sep 2018, Gel status: 4

Changed Name, Set Phenotypes

Louise Daugherty (Genomics England Curator)

22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Gain was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain Added phenotypes 608363; Chromosome 22q11.2 microduplication syndrome; dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement; delayed psychomotor development, growth retardation, and/or hypotonia for Region: ISCA-37433-Gain

10 Sep 2018, Gel status: 4

Changed GRCh38

Louise Daugherty (Genomics England Curator)

GRCh38 position for ISCA-37433-Gain was changed from 18178958-20324381 to 18924718-20299686.

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-37433-Gain was added Region: ISCA-37433-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37433-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37433-Gain were set to 17250668; 20301749; 18414210 Phenotypes for Region: ISCA-37433-Gain were set to delayed psychomotor development, growth retardation, and/or hypotonia; dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement; Chromosome 22q11.2 microduplication syndrome; 608363