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Familial non syndromic congenital heart disease

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 been subsumed into ISCA-37446 which is green on multiple GMS panels including this panel (https://panelapp.genomicsengland.co.uk/panels/entities/ISCA-37446-Loss)

Checked and approved by the Genomics England Clinical team.
Created: 12 Nov 2025, 4:14 p.m. | Last Modified: 12 Nov 2025, 4:14 p.m.
Panel Version: 1.88
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: 1.74
Created: 16 Mar 2022, 1:10 p.m.
Last Modified: 16 Mar 2022, 1:10 p.m.
Panel version: 1.74

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
  • 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
Tags
curated_removed
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

12 Nov 2025, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

12 Nov 2025, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Region: isca-37433-loss has been classified as Green List (High Evidence).

12 Nov 2025, 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.

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 Familial non syndromic congenital heart disease. 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