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Common deletion and duplication syndromes

Region: ISCA-37500-Loss

Chromosome 15q25 deletion syndrome

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities

Publications

Created: 1 Dec 2020, 7:29 a.m.
Last Modified: 1 Dec 2020, 7:29 a.m.
Panel version: 0.59

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects.

Contains an imprinted region
Created: 1 Dec 2020, 5:41 a.m. | Last Modified: 1 Dec 2020, 5:41 a.m.
Panel Version: 0.45
Individuals with recurrent deletions of 15q25.2 are at increased risk for CDH and other birth defects.
Sources: Expert list
Created: 1 Dec 2020, 5:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chromosome 15q25 deletion syndrome MIM#614294

Publications

Created: 1 Dec 2020, 5:03 a.m.

Panel version: 0.45

Details

ISCA ID
ISCA-37500-Loss
ISCA Region Name
Chromosome 15q25 deletion syndrome
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, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 15q25 deletion syndrome MIM#614294
  • intellectual disability
  • congenital abnormalities
  • haematological abnormalities
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

1 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37500-loss has been classified as Green List (High Evidence).

1 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for Region: ISCA-37500-Loss were changed from Chromosome 15q25 deletion syndrome MIM#614294 to Chromosome 15q25 deletion syndrome MIM#614294; intellectual disability; congenital abnormalities; haematological abnormalities

1 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for Region: ISCA-37500-Loss were set to PMID: 20921022

1 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37500-loss has been classified as Green List (High Evidence).

1 Dec 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

Region: ISCA-37500-Loss was added Region: ISCA-37500-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37500-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37500-Loss were set to PMID: 20921022 Phenotypes for Region: ISCA-37500-Loss were set to Chromosome 15q25 deletion syndrome MIM#614294 Review for Region: ISCA-37500-Loss was set to GREEN