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Skeletal dysplasia

Region: ISCA-37418-Loss

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

Green List (high evidence)
Chromosome: 17
GRCh38 Position: 16906714-20309889
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

2 reviews

Arina Puzriakova (Genomics England Curator)

The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 1 p.m. | Last Modified: 16 Mar 2022, 1 p.m.
Panel Version: 2.190
Created: 16 Mar 2022, 1 p.m.
Last Modified: 16 Mar 2022, 1 p.m.
Panel version: 2.190

Eleanor Williams (Genomics England Curator)

This region was part of an initial list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Region submitted: ISCA-37418-Loss; Initial rating suggestion: none given
Created: 6 Mar 2019, 1:53 p.m.
Created: 6 Mar 2019, 1:53 p.m.

Panel version: 1.147

Details

ISCA ID
ISCA-37418-Loss
ISCA Region Name
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
Chromosome
17
GRCh38 Coordinates
16906714-20309889
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
60%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • 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
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss

History Filter Activity

16 Mar 2022, Gel status: 3

Changed GRCh38, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37418-Loss was changed from 16853797-20316338 to 16906714-20309889. Required Overlap Percentage for ISCA-37418-Loss was changed from 80 to 60.

7 Mar 2019, Gel status: 4

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to Region: ISCA-37418-Loss.

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 Unexplained skeletal dysplasia. 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