Common deletion and duplication syndromes
Region: ISCA-37408-LossChromosome 2p16.1-p15 deletion syndrome
GRCh38 Position: 58912065-62261736
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)
Well established recurrent CNV, deletions are characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. Many patients have behavioral disorders, including autistic features, as well as structural brain abnormalities, such as pachygyria or hypoplastic corpus callosum. Those with deletions including the BCL11A gene also have persistence of fetal hemoglobin (HbF), which is asymptomatic.
Sources: Expert listCreated: 30 Nov 2020, 8:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 2p16.1-p15 deletion syndrome 612513; intellectual disability; autism; microcephaly; dysmorphic features
Publications
Details
- ISCA ID
- ISCA-37408-Loss
- ISCA Region Name
- Chromosome 2p16.1-p15 deletion syndrome
- Chromosome
- 2
- GRCh38 Coordinates
- 58912065-62261736
- 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 2p16.1-p15 deletion syndrome 612513
- intellectual disability
- autism
- microcephaly
- dysmorphic features
- Tags
- 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-37408-loss has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37408-loss has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: ISCA-37408-Loss was added Region: ISCA-37408-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37408-Loss. Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37408-Loss were set to 25938782; 16963482 Phenotypes for Region: ISCA-37408-Loss were set to Chromosome 2p16.1-p15 deletion syndrome 612513; intellectual disability; autism; microcephaly; dysmorphic features Review for Region: ISCA-37408-Loss was set to GREEN