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Intellectual disability

Region: ISCA-37397-Gain

22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain

Green List (high evidence)

Chromosome: 22
GRCh38 Position: 21443089-23306926
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-37397-Gain
ISCA Region Name
22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain
Chromosome
22
GRCh38 Coordinates
21443089-23306926
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
  • seizures
  • failure to thrive
  • ADHD
  • heart defects
  • speech disturbances
  • hypernasal speech
  • hearing impariment
  • abnormal behaviour
  • developmental delay
  • hypotonia
  • micro- or macrocephaly
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-37397-Gain was added Region: ISCA-37397-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37397-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37397-Gain were set to 18414210; 22140377; 19193630 Phenotypes for Region: ISCA-37397-Gain were set to seizures; failure to thrive; ADHD; heart defects; speech disturbances; hypernasal speech; hearing impariment; abnormal behaviour; developmental delay; hypotonia; micro- or macrocephaly