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Common deletion and duplication syndromes

Region: ISCA-37418-Gain

Potocki-Lupski syndrome

Green List (high evidence)

Chromosome: 17
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)

Green List (high evidence)

Well established CNV. Reciprocal duplication of the 17p11.2 deletion causing Smith-Magenis syndrome.
Sources: Expert list
Created: 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

2 Dec 2020, Gel status: 3

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).

2 Dec 2020, Gel status: 3

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).

2 Dec 2020, Gel status: 1

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