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Intellectual disability

Region: ISCA-37500-Loss

15q25.2 recurrent region (LCR B-C, proximal) Loss

Green List (high evidence)

Chromosome: 15
GRCh38 Position: 82534141-84045981
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

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Details

ISCA ID
ISCA-37500-Loss
ISCA Region Name
15q25.2 recurrent region (LCR B-C, proximal) Loss
Chromosome
15
GRCh38 Coordinates
82534141-84045981
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
  • mild to moderate cognitive deficit
  • Diamond-Blackfan anemia
  • intellectual disability
  • 614294
  • anemia
  • congenital diaphragmatic hernia
  • cryptorchidism in males
  • severe speech and psychomotor delay
  • mental retardation
  • postnatal short stature
  • behavioral problem
  • mild dysmorphic feature
  • developmental delay
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-37500-Loss was added Region: ISCA-37500-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37500-Loss were set to 23166063; 17847001; 24352913 Phenotypes for Region: ISCA-37500-Loss were set to mild to moderate cognitive deficit; Diamond-Blackfan anemia; intellectual disability; 614294; anemia; congenital diaphragmatic hernia; cryptorchidism in males; severe speech and psychomotor delay; mental retardation; postnatal short stature; behavioral problem; mild dysmorphic feature; developmental delay