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  3. ISCA-37443-Loss
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Common deletion and duplication syndromes

Region: ISCA-37443-Loss

Chromosome 3q29 microdeletion syndrome

Green List (high evidence)
Chromosome: 3
GRCh38 Position: 196029183-197617794
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

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established CNV

Patients have intellectual disabilities, a history of autism and psychiatric symptoms.

The region of overlap encompasses 20 RefSeq genes, including FBX045, DLG1, and PAK2.

Both familial and de novo reports
Sources: Expert list
Created: 1 Dec 2020, 9:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Chromosome 3q29 microdeletion syndrome MIM#609425

Publications

Created: 1 Dec 2020, 9:13 p.m.

Panel version: 0.71

Details

ISCA ID
ISCA-37443-Loss
ISCA Region Name
Chromosome 3q29 microdeletion syndrome
Chromosome
3
GRCh38 Coordinates
196029183-197617794
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, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 3q29 microdeletion syndrome MIM#609425
  • intellectual disability
  • autism
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

3 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37443-loss has been classified as Green List (High Evidence).

3 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for Region: ISCA-37443-Loss were changed from Chromosome 3q29 microdeletion syndrome MIM#609425 to Chromosome 3q29 microdeletion syndrome MIM#609425; intellectual disability; autism

3 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37443-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-37443-Loss was added Region: ISCA-37443-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37443-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37443-Loss were set to PMID: 20830797; 19460468; 19610115 Phenotypes for Region: ISCA-37443-Loss were set to Chromosome 3q29 microdeletion syndrome MIM#609425 Review for Region: ISCA-37443-Loss was set to GREEN