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Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Region: ISCA-37425-Loss

5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss

Green List (high evidence)
Chromosome: 5
GRCh38 Position: 176301976-177620792
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

1 review

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, 1:04 p.m. | Last Modified: 16 Mar 2022, 1:04 p.m.
Panel Version: 1.116
Created: 16 Mar 2022, 1:04 p.m.
Last Modified: 16 Mar 2022, 1:04 p.m.
Panel version: 1.116

Details

ISCA ID
ISCA-37425-Loss
ISCA Region Name
5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss
Chromosome
5
GRCh38 Coordinates
176301976-177620792
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
  • Expert Review Green
  • ClinGen
Phenotypes
  • macrocephaly, overgrowth and advanced bone age
  • colpocephaly
  • Sotos syndrome
  • macrocephaly
  • 117550
  • rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss

History Filter Activity

16 Mar 2022, Gel status: 3

Changed GRCh38, Changed Triplosensitivity Score, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37425-Loss was changed from 176301975-177586960 to 176301976-177620792. Triplosensitivity Score for ISCA-37425-Loss was changed from to None. Required Overlap Percentage for ISCA-37425-Loss was changed from 80 to 60.

7 Sep 2018, Gel status: 4

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-37425-Loss was added Region: ISCA-37425-Loss was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37425-Loss were set to macrocephaly, overgrowth and advanced bone age; colpocephaly; Sotos syndrome; macrocephaly; 117550; rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw