Common deletion and duplication syndromes
Region: ISCA-37429-LossWolf-Hirschhorn syndrome, chromosome 4p16.3 terminal deletion
GRCh38 Position: 337779-2009235
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: 3 Dec 2020, 9:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Wolf-Hirschhorn syndrome, MIM# 194190; intellectual disability; growth retardation; seizures; dysmorphic features
Details
- ISCA ID
- ISCA-37429-Loss
- ISCA Region Name
- Wolf-Hirschhorn syndrome, chromosome 4p16.3 terminal deletion
- Chromosome
- 4
- GRCh38 Coordinates
- 337779-2009235
- 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
-
- Wolf-Hirschhorn syndrome, MIM# 194190
- intellectual disability
- growth retardation
- seizures
- dysmorphic features
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37429-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-37429-loss has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: ISCA-37429-Loss was added Region: ISCA-37429-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37429-Loss. Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM# 194190; intellectual disability; growth retardation; seizures; dysmorphic features Review for Region: ISCA-37429-Loss was set to GREEN