Common deletion and duplication syndromes
Region: ISCA-37501-LossChromosome 17q23.1-q23.2 deletion syndrome
GRCh38 Position: 60035641-62198448
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)
Includes TBX2 and TBX4. Deletion also reported in individuals with neonatal pulmonary hypertension and interstitial lung disease.Created: 1 Dec 2020, 7:23 a.m. | Last Modified: 1 Dec 2020, 7:23 a.m.
Panel Version: 0.56
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355; intellectual disability; microcephaly; congenital anomalies; pulmonary hypertension
Publications
Elena Savva (Victorian Clinical Genetics Services)
These individuals have common features, including mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, and hand, foot, and limb abnormalities.
Sources: Expert listCreated: 1 Dec 2020, 5:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355
Publications
- PMID: 20206336
Details
- ISCA ID
- ISCA-37501-Loss
- ISCA Region Name
- Chromosome 17q23.1-q23.2 deletion syndrome
- Chromosome
- 17
- GRCh38 Coordinates
- 60035641-62198448
- 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
-
- Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355
- intellectual disability
- microcephaly
- congenital anomalies
- pulmonary hypertension
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37501-loss has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for Region: ISCA-37501-Loss were changed from Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355 to Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355; intellectual disability; microcephaly; congenital anomalies; pulmonary hypertension
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for Region: ISCA-37501-Loss were set to PMID: 20206336
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37501-loss has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)Region: ISCA-37501-Loss was added Region: ISCA-37501-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37501-Loss were set to PMID: 20206336 Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome MIM#613355 Review for Region: ISCA-37501-Loss was set to GREEN