Genes in panel
Prev Next
STRs in panel
Prev Next

Skeletal dysplasia

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

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.

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
  • 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

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