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Intellectual disability

Region: ISCA-37418-Loss

17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss

Green List (high evidence)

Chromosome: 17
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 (Australian Genomics)

Green List (high evidence)

Pls note the phenotype associated with deletions is Smith-Magenis syndrome, not Potocki-Lupski syndrome.
Created: 2 Dec 2020, 7:03 a.m. | Last Modified: 2 Dec 2020, 7:03 a.m.
Panel Version: 3.573

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Smith-Magenis syndrome, MIM# 182290

Details

ISCA ID
ISCA-37418-Loss
ISCA Region Name
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
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, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Smith-Magenis syndrome, OMIM:182290
  • Smith-Magenis syndrome, MONDO:0008434
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss

History Filter Activity

9 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for Region: ISCA-37418-Loss were changed from Potocki-Lupski syndrome; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders; Smith-Magenis syndrome; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; 182290; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities to Smith-Magenis syndrome, OMIM:182290; Smith-Magenis syndrome, MONDO:0008434

7 Sep 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Region: ISCA-37418-Loss was added Region: ISCA-37418-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders; Smith-Magenis syndrome; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; 182290; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities