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Intellectual disability

Region: ISCA-37433-Loss

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

Green List (high evidence)

Chromosome: 22
GRCh38 Position: 18924718-20299686
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-37433-Loss
ISCA Region Name
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Chromosome
22
GRCh38 Coordinates
18924718-20299686
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
  • Expert Review Green
  • ClinGen
Phenotypes
  • 188400
  • immune deficiency
  • renal anomalies
  • 22q11.2 deletion syndrome
  • 192430
  • facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay
  • cleft palate, polydactyly
  • polyhydramnios
  • Velocardiofacial syndrome
  • diaphragmatic hernia
  • DiGeorge syndrome
  • congenital heart disease
  • Learning difficulties
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

11 Sep 2018, Gel status: 4

Changed Name, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748

10 Sep 2018, Gel status: 4

Changed GRCh38

Louise Daugherty (Genomics England Curator)

GRCh38 position for ISCA-37433-Loss 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-Loss was added Region: ISCA-37433-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37433-Loss were set to 15545748; 15889418; 20301696 Phenotypes for Region: ISCA-37433-Loss were set to facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; diaphragmatic hernia; Learning difficulties; 192430; immune deficiency; congenital heart disease; 22q11.2 deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; cleft palate, polydactyly; polyhydramnios; 188400; renal anomalies