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COVID-19 research

Region: ISCA-37446-Loss

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

Green List (high evidence)

Chromosome: 22
GRCh38 Position: 18924718-21111384
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-37446-Loss
ISCA Region Name
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
Chromosome
22
GRCh38 Coordinates
18924718-21111384
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
  • 188400
  • clefting
  • Velocardiofacial syndrome
  • neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
  • cardiac malformations
  • Hearing deficits
  • DiGeorge syndrome
  • micrognathia
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Region: ISCA-37446-Loss was added Region: ISCA-37446-Loss was added to Viral susceptibility. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37446-Loss were set to 188400; clefting; Velocardiofacial syndrome; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; cardiac malformations; Hearing deficits; DiGeorge syndrome; micrognathia