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COVID-19 research

Region: ISCA-37433-Loss

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

No list
Chromosome: 22
GRCh38 Position: 18924718-20299685
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

1 review

Arina Puzriakova (Genomics England Curator)

Comment on list classification: This region has been deprecated by ClinGen and therefore has been removed from the panel.

This region has also been removed from all GMS panels following NHS Genomic Medicine Service approval.
Created: 17 Mar 2026, 4:07 p.m. | Last Modified: 17 Mar 2026, 4:07 p.m.
Panel Version: 1.147
The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 1:10 p.m. | Last Modified: 16 Mar 2022, 1:10 p.m.
Panel Version: 1.116
Created: 16 Mar 2022, 1:10 p.m.
Last Modified: 16 Mar 2022, 1:10 p.m.
Panel version: 1.116

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
18924718-20299685
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
60%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • ClinGen
Phenotypes
  • diaphragmatic hernia
  • facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay
  • 192430
  • 188400
  • 22q11.2 deletion syndrome
  • renal anomalies
  • cleft palate, polydactyly
  • congenital heart disease
  • Learning difficulties
  • Velocardiofacial syndrome
  • polyhydramnios
  • DiGeorge syndrome
  • immune deficiency
Tags
curated_removed
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

17 Mar 2026, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Region: isca-37433-loss has been removed from the panel.

17 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to Region: ISCA-37433-Loss.

16 Mar 2022, Gel status: 3

Changed GRCh38, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37433-Loss was changed from 18924718-20299686 to 18924718-20299685. Required Overlap Percentage for ISCA-37433-Loss was changed from 80 to 60.

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

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