Common deletion and duplication syndromes
Region: ISCA-37390-LossCri-du-chat syndrome, 5p15 terminal deletion syndrome
GRCh38 Position: 37695-11347150
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: Small variants
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established recurrent CNV.
Sources: Expert ReviewCreated: 27 Nov 2020, 9:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cri-du-chat syndrome MIM#123450; intellectual disability; microcephaly
Publications
Details
- ISCA ID
- ISCA-37390-Loss
- ISCA Region Name
- Cri-du-chat syndrome, 5p15 terminal deletion syndrome
- Chromosome
- 5
- GRCh38 Coordinates
- 37695-11347150
- 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 Review
- Phenotypes
-
- Cri-du-chat syndrome MIM#123450
- intellectual disability
- microcephaly
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- Small variants
- Publications
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for Region: ISCA-37390-Loss were changed from Cri-du-chat syndrome; intellectual disability; microcephaly to Cri-du-chat syndrome MIM#123450; intellectual disability; microcephaly
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37390-loss has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for Region: ISCA-37390-Loss were set to
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to Region: ISCA-37390-Loss.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37390-loss has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: ISCA-37390-Loss was added Region: ISCA-37390-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA-37390-Loss were set to Cri-du-chat syndrome; intellectual disability; microcephaly Review for Region: ISCA-37390-Loss was set to GREEN