Primary immunodeficiency or monogenic inflammatory bowel disease
Region: ISCA-37446-Loss22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (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, 1:22 p.m. | Last Modified: 16 Mar 2022, 1:22 p.m.
Panel Version: 2.537
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
Agree with green statusCreated: 23 Oct 2019, 6:37 a.m. | Last Modified: 23 Oct 2019, 6:37 a.m.
Panel Version: 1.132
GRCh38 position for ISCA-37446-Loss was changed from 18924718-21111384 to 18924718-21111383. Required Overlap Percentage for ISCA-37446-Loss was changed from 80 to 60.
Publications for Region: ISCA-37446-Loss were set to
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
GRCh38 position for ISCA-37446-Loss was changed from 18178958-21207225 to 18924718-21111384.
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