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Common deletion and duplication syndromes

Region: ISCA-46295-Loss

Chromosome 15q13.3 microdeletion syndrome

Green List (high evidence)
Chromosome: 15
GRCh38 Position: 31727418-32153205
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)

This region spans D-CHRNA7 to BP5.
Created: 1 Dec 2020, 6:37 a.m. | Last Modified: 1 Dec 2020, 6:37 a.m.
Panel Version: 0.50

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures

Created: 1 Dec 2020, 6:37 a.m.
Last Modified: 1 Dec 2020, 6:37 a.m.
Panel version: 0.50

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established CNV

PMID: 19289393: incomplete penetrance well reported for autism, mental retardation, and psychiatric disorders

Specific genes implicated in the phenotype include CHRNA7 (118511) and OTUD7A (612024)
Sources: Expert list
Created: 1 Dec 2020, 4:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chromosome 15q13.3 microdeletion syndrome MIM#612001

Publications

Created: 1 Dec 2020, 4:35 a.m.

Panel version: 0.45

Details

ISCA ID
ISCA-46295-Loss
ISCA Region Name
Chromosome 15q13.3 microdeletion syndrome
Chromosome
15
GRCh38 Coordinates
31727418-32153205
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
80%
Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 15q13.3 microdeletion syndrome MIM#612001
  • intellectual disability
  • seizures
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-46295-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-46295-Loss were changed from Chromosome 15q13.3 microdeletion syndrome MIM#612001 to Chromosome 15q13.3 microdeletion syndrome MIM#612001; intellectual disability; seizures

1 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for Region: ISCA-46295-Loss was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-46295-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-46295-Loss was added Region: ISCA-46295-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-46295-Loss were set to PMID: 19289393 Phenotypes for Region: ISCA-46295-Loss were set to Chromosome 15q13.3 microdeletion syndrome MIM#612001 Review for Region: ISCA-46295-Loss was set to GREEN