IUGR and IGF abnormalities
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
1 review
Arina Puzriakova (Genomics England Curator)
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, 12:50 p.m. | Last Modified: 16 Mar 2022, 12:50 p.m.
Panel Version: 1.51
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 Green
- ClinGen
- Phenotypes
-
- diaphragmatic hernia
- mild skeletal abnormalities
- uterine didelphys
- 611867
- DiGeorge syndrome (DGS)
- clinodactyly
- velocardiofacial syndrome
- ADHD
- Goldenhar syndrome
- prematurity
- developmental delay
- micropephaly
- cardiovascular defects
- Seizures
- global developmental delay
- language delay
- prenatal and postnatal growth delay
- Hyptonia
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
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.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)Region: ISCA-37397-Loss was added Region: ISCA-37397-Loss was added to IUGR and IGF abnormalities. 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 21671380; 23765049; 18179902 Phenotypes for Region: ISCA-37397-Loss were set to diaphragmatic hernia; mild skeletal abnormalities; uterine didelphys; 611867; DiGeorge syndrome (DGS); clinodactyly; velocardiofacial syndrome; ADHD; Goldenhar syndrome; prematurity; developmental delay; micropephaly; cardiovascular defects; Seizures; global developmental delay; language delay; prenatal and postnatal growth delay; Hyptonia