IUGR and IGF abnormalities

Region: ISCA-37397-Loss

22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss

Green List (high evidence)

Chromosome: 22
GRCh38 Position: 21443089-23306926
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

0 reviews

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
21443089-23306926
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
80%
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

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-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