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Intellectual disability

Region: ISCA-37446-Gain

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

Green List (high evidence)

Chromosome: 22
GRCh38 Position: 18924718-21111384
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-37446-Gain
ISCA Region Name
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain
Chromosome
22
GRCh38 Coordinates
18924718-21111384
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
  • intellectual disability and congenital abnormalities,Autism
  • chromosome 22q11.2 microduplication
  • heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal
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 -D) Gain was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain Added phenotypes intellectual disability and congenital abnormalities,Autism; chromosome 22q11.2 microduplication; 608363; heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal for Region: ISCA-37446-Gain

10 Sep 2018, Gel status: 4

Changed GRCh38

Louise Daugherty (Genomics England Curator)

GRCh38 position for ISCA-37446-Gain was changed from 18178958-21207225 to 18924718-21111384.

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-37446-Gain was added Region: ISCA-37446-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37446-Gain were set to 23044707; 22970919 Phenotypes for Region: ISCA-37446-Gain were set to chromosome 22q11.2 microduplication; heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal; 608363; intellectual disability and congenital abnormalities,Autism