Primary immunodeficiency or monogenic inflammatory bowel disease
Region: ISCA-37433-Loss22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
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: 2.537
The following PubMed IDs were added to entity ISCA-37433-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, 6:14 p.m. | Last Modified: 14 Oct 2020, 6:14 p.m.
Panel Version: 2.334
The following PubMed IDs were added to entity ISCA-37433-Loss: 24198816;20425828. These publications have been associated with OMIM phenotype MIM#192430, 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, 6:14 p.m. | Last Modified: 14 Oct 2020, 6:14 p.m.
Panel Version: 2.334
Publications
Agree with green ratingCreated: 23 Oct 2019, 6:37 a.m. | Last Modified: 23 Oct 2019, 6:37 a.m.
Panel Version: 1.132
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.
Publications for Region: ISCA-37433-Loss were set to 15889418; 20301696; 15545748
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
GRCh38 position for ISCA-37433-Loss was changed from 18178958-20324381 to 18924718-20299686.
Region: ISCA-37433-Loss was added Region: ISCA-37433-Loss was added to Primary immunodeficiency disorders. 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