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Intellectual disability

Region: ISCA-37421-Loss

1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss

Green List (high evidence)

Chromosome: 1
GRCh38 Position: 147105904-147922392
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-37421-Loss
ISCA Region Name
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss
Chromosome
1
GRCh38 Coordinates
147105904-147922392
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
  • dysmorphic features
  • 612474
  • Moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts
  • mild to moderate developmental delay
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss

History Filter Activity

7 Sep 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Region: ISCA-37421-Loss was added Region: ISCA-37421-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37421-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37421-Loss were set to dysmorphic features; 612474; Moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts; mild to moderate developmental delay