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Common deletion and duplication syndromes

Region: ISCA-37415-Loss

Chromosome 16p13.11 deletion syndrome

Green List (high evidence)
Chromosome: 16
GRCh38 Position: 15410597-16198411
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 CNV.
Sources: Expert list
Created: 30 Nov 2020, 9:33 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
16p13.11 microdeletion syndrome; intellectual disability; autism; epilepsy

Publications

Created: 30 Nov 2020, 9:33 p.m.

Panel version: 0.44

Details

ISCA ID
ISCA-37415-Loss
ISCA Region Name
Chromosome 16p13.11 deletion syndrome
Chromosome
16
GRCh38 Coordinates
15410597-16198411
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
  • 16p13.11 microdeletion syndrome
  • intellectual disability
  • autism
  • epilepsy
Tags
SV/CNV
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

30 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37415-loss has been classified as Green List (High Evidence).

30 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37415-loss has been classified as Green List (High Evidence).

30 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: ISCA-37415-Loss was added Region: ISCA-37415-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37415-Loss. Mode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37415-Loss were set to 24105370; 23637818; 22523559 Phenotypes for Region: ISCA-37415-Loss were set to 16p13.11 microdeletion syndrome; intellectual disability; autism; epilepsy Review for Region: ISCA-37415-Loss was set to GREEN