Common deletion and duplication syndromes
Region: ISCA_37418-LossSmith-Magenis syndrome
GRCh38 Position: 16853797-20316338
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, features of SMS due to RAI1 deletion.
Sources: Expert listCreated: 2 Dec 2020, 7:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Smith-Magenis syndrome, MIM# 182290; intellectual disability; dysmorphic features; behavioural issues
Details
- ISCA ID
- ISCA_37418-Loss
- ISCA Region Name
- Smith-Magenis syndrome
- Chromosome
- 17
- GRCh38 Coordinates
- 16853797-20316338
- 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
-
- Smith-Magenis syndrome, MIM# 182290
- intellectual disability
- dysmorphic features
- behavioural issues
- 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_37418-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_37418-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_37418-Loss was added Region: ISCA_37418-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA_37418-Loss. Mode of inheritance for Region: ISCA_37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA_37418-Loss were set to Smith-Magenis syndrome, MIM# 182290; intellectual disability; dysmorphic features; behavioural issues Review for Region: ISCA_37418-Loss was set to GREEN