Common deletion and duplication syndromes
Region: ISCA-37418-GainPotocki-Lupski syndrome
GRCh38 Position: 16853797-20316338
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established CNV. Reciprocal duplication of the 17p11.2 deletion causing Smith-Magenis syndrome.
Sources: Expert listCreated: 2 Dec 2020, 4:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Potocki-Lupski syndrome, MIM# 610883; intellectual disability; hypotonia; congenital anomalies
Details
- ISCA ID
- ISCA-37418-Gain
- ISCA Region Name
- Potocki-Lupski syndrome
- Chromosome
- 17
- GRCh38 Coordinates
- 16853797-20316338
- Haploinsufficiency Score
- Triplosensitivity Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Required percent of overlap
- 80%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Potocki-Lupski syndrome, MIM# 610883
- intellectual disability
- hypotonia
- congenital anomalies
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37418-gain 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-gain 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-37418-Gain was added Region: ISCA-37418-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA-37418-Gain were set to Potocki-Lupski syndrome, MIM# 610883; intellectual disability; hypotonia; congenital anomalies Review for Region: ISCA-37418-Gain was set to GREEN