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Regions in panel

Intellectual disability

Region: ISCA-37415-Gain

16p13.11 recurrent region (includes MYH11) Gain

Green List (high evidence)

Chromosome: 16
GRCh38 Position: 15410597-16198411
Haploinsufficiency Score:
Triplosensitivity Score: Emerging evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Recent cohort of 45 individuals further delineating phenotype associated with this duplication.
Created: 30 Nov 2020, 9 p.m. | Last Modified: 30 Nov 2020, 9 p.m.
Panel Version: 3.569

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; autism; aortopathy

Publications

Details

ISCA ID
ISCA-37415-Gain
ISCA Region Name
16p13.11 recurrent region (includes MYH11) Gain
Chromosome
16
GRCh38 Coordinates
15410597-16198411
Haploinsufficiency Score
Triplosensitivity Score
Emerging evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Intellectual disability
  • Developmental delay
  • Autism
  • Aortopathy
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

1 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for Region: ISCA-37415-Gain were changed from to Intellectual disability; Developmental delay; Autism; Aortopathy

1 Dec 2020, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for Region: ISCA-37415-Gain were set to 23637818; 24352232; 21614007

7 Sep 2018, Gel status: 4

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-37415-Gain was added Region: ISCA-37415-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37415-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37415-Gain were set to 23637818; 24352232; 21614007