Common deletion and duplication syndromes
Region: ISCA-37421-LossChromosome 1q21.1 deletion syndrome, distal BP3-BP4
GRCh38 Position: 147105904-147922392
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 CNV.
Sources: Expert listCreated: 2 Dec 2020, 7:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 1q21.1 deletion syndrome, MIM# 612474; intellectual disability; microcephaly; congenital anomalies
Publications
Details
- ISCA ID
- ISCA-37421-Loss
- ISCA Region Name
- Chromosome 1q21.1 deletion syndrome, distal BP3-BP4
- Chromosome
- 1
- GRCh38 Coordinates
- 147105904-147922392
- 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 1q21.1 deletion syndrome, MIM# 612474
- intellectual disability
- microcephaly
- congenital anomalies
- 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-37421-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-37421-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-37421-Loss was added Region: ISCA-37421-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37421-Loss. Mode of inheritance for Region: ISCA-37421-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37421-Loss were set to 32655619 Phenotypes for Region: ISCA-37421-Loss were set to Chromosome 1q21.1 deletion syndrome, MIM# 612474; intellectual disability; microcephaly; congenital anomalies Review for Region: ISCA-37421-Loss was set to GREEN