Growth failure in early childhood
Region: ISCA-37397-Loss22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss
GRCh38 Position: 21562828-23306924
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: Previous phenotypes: uterine didelphys;language delay;Hyptonia;prematurity;clinodactyly;ADHD;Goldenhar syndrome;developmental delay;611867;diaphragmatic hernia;DiGeorge syndrome (DGS);velocardiofacial syndrome;mild skeletal abnormalities;Seizures;global developmental delay;prenatal and postnatal growth delay;micropephaly;cardiovascular defectsCreated: 26 Mar 2024, 5:26 p.m. | Last Modified: 26 Mar 2024, 5:26 p.m.
Panel Version: 3.86
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, 12:51 p.m. | Last Modified: 16 Mar 2022, 12:51 p.m.
Panel Version: 1.101
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, demoted this CNV from Green to Red because Clinical Indication R147 will be delivered by panel/exome.Created: 30 May 2019, 10:01 a.m.
Details
- ISCA ID
- ISCA-37397-Loss
- ISCA Region Name
- 22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss
- Chromosome
- 22
- GRCh38 Coordinates
- 21562828-23306924
- 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 Red
- ClinGen
- Phenotypes
-
- Chromosome 22q11.2 deletion syndrome, distal, OMIM:611867
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for Region: ISCA-37397-Loss were changed from uterine didelphys; language delay; Hyptonia; prematurity; clinodactyly; ADHD; Goldenhar syndrome; developmental delay; 611867; diaphragmatic hernia; DiGeorge syndrome (DGS); velocardiofacial syndrome; mild skeletal abnormalities; Seizures; global developmental delay; prenatal and postnatal growth delay; micropephaly; cardiovascular defects to Chromosome 22q11.2 deletion syndrome, distal, OMIM:611867
Changed GRCh38, Changed Required Overlap Percentage
Arina Puzriakova (Genomics England Curator)GRCh38 position for ISCA-37397-Loss was changed from 21443089-23306926 to 21562828-23306924. Required Overlap Percentage for ISCA-37397-Loss was changed from 80 to 60.
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Region: isca-37397-loss has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)Region: ISCA-37397-Loss was added Region: ISCA-37397-Loss was added to Growth failure in early childhood. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37397-Loss were set to 18179902; 23765049; 21671380 Phenotypes for Region: ISCA-37397-Loss were set to uterine didelphys; language delay; Hyptonia; prematurity; clinodactyly; ADHD; Goldenhar syndrome; developmental delay; 611867; diaphragmatic hernia; DiGeorge syndrome (DGS); velocardiofacial syndrome; mild skeletal abnormalities; Seizures; global developmental delay; prenatal and postnatal growth delay; micropephaly; cardiovascular defects