1. Panels
  2. Common deletion and duplication syndromes
  3. ISCA-37396-Loss
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Common deletion and duplication syndromes

Region: ISCA-37396-Loss

Chromosome 15q24 deletion syndrome

Green List (high evidence)
Chromosome: 15
GRCh38 Position: 72671374-75680568
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established recurrent CNV.
Sources: Expert list
Created: 27 Nov 2020, 9:24 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chromosome 15q24 deletion syndrome, MIM#613406; intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive

Publications

Created: 27 Nov 2020, 9:24 p.m.

Panel version: 0.15

Details

ISCA ID
ISCA-37396-Loss
ISCA Region Name
Chromosome 15q24 deletion syndrome
Chromosome
15
GRCh38 Coordinates
72671374-75680568
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, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 15q24 deletion syndrome, MIM#613406
  • intellectual disability
  • facial dysmorphisms
  • congenital malformations of the hands and feet, eye, and genitalia
  • joint laxity
  • and growth retardation and failure to thrive
Tags
SV/CNV
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

27 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37396-loss has been classified as Green List (High Evidence).

27 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37396-loss has been classified as Green List (High Evidence).

27 Nov 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to Region: ISCA-37396-Loss.

27 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: ISCA-37396-Loss was added Region: ISCA-37396-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321; 22359776 Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, MIM#613406; intellectual disability; facial dysmorphisms; congenital malformations of the hands and feet, eye, and genitalia; joint laxity; and growth retardation and failure to thrive Review for Region: ISCA-37396-Loss was set to GREEN