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  3. ISCA-37432-Loss
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Common deletion and duplication syndromes

Region: ISCA-37432-Loss

Chromosome 17q12 deletion syndrome

Green List (high evidence)
Chromosome: 17
GRCh38 Position: 36458167-37854617
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

Includes HNF1B resulting in renal cysts and diabetes syndrome - cognitive impairment impairment is rare
Sources: Expert list
Created: 6 Dec 2020, 9:25 p.m.

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

Phenotypes
Chromosome 17q12 deletion syndrome MIM#614527

Publications

Created: 6 Dec 2020, 9:25 p.m.

Panel version: 0.119

Details

ISCA ID
ISCA-37432-Loss
ISCA Region Name
Chromosome 17q12 deletion syndrome
Chromosome
17
GRCh38 Coordinates
36458167-37854617
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 17q12 deletion syndrome MIM#614527
  • Renal cysts and diabetes (RCAD) syndrome
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37432-loss has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for Region: ISCA-37432-Loss were changed from Chromosome 17q12 deletion syndrome MIM#614527 to Chromosome 17q12 deletion syndrome MIM#614527; Renal cysts and diabetes (RCAD) syndrome

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37432-loss has been classified as Green List (High Evidence).

6 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-37432-Loss was added Region: ISCA-37432-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37432-Loss were set to PMID: 19844256 Phenotypes for Region: ISCA-37432-Loss were set to Chromosome 17q12 deletion syndrome MIM#614527 Review for Region: ISCA-37432-Loss was set to GREEN