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Primary immunodeficiency

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

2 reviews

Eleanor Williams (Genomics England Curator)

The following PubMed IDs were added to entity ISCA-37446-Loss: 12548732. These publications have been associated with OMIM phenotype MIM#188400, which is listed for this entity, by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 14 Oct 2020, 6:11 p.m. | Last Modified: 14 Oct 2020, 6:11 p.m.
Panel Version: 2.333

Publications

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Agree with green status
Created: 23 Oct 2019, 6:37 a.m. | Last Modified: 23 Oct 2019, 6:37 a.m.
Panel Version: 1.132

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
  • Expert Review Green
  • ClinGen
Phenotypes
  • 188400
  • 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
  • micrognathia
  • clefting
  • Hearing deficits
  • Velocardiofacial syndrome
  • cardiac malformations
  • DiGeorge syndrome
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

14 Oct 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for Region: ISCA-37446-Loss were set to

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) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss Added phenotypes 188400; 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; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss

10 Sep 2018, Gel status: 4

Changed GRCh38

Louise Daugherty (Genomics England Curator)

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

7 Sep 2018, Gel status: 4

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-37446-Loss was added Region: ISCA-37446-Loss was added to Primary immunodeficiency disorders. Sources: ClinGen,Expert Review Green 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 cardiac malformations; clefting; 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; Velocardiofacial syndrome; DiGeorge syndrome; micrognathia; Hearing deficits; 188400