1. Panels
  2. Monogenic short stature
  3. ISCA-37429-Loss
STRs in panel
Prev Next

Monogenic short stature

Region: ISCA-37429-Loss

4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss

Red List (low evidence)
Chromosome: 4
GRCh38 Position: 337779-2009235
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% following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 1:33 p.m. | Last Modified: 16 Mar 2022, 1:33 p.m.
Panel Version: 1.101
Created: 16 Mar 2022, 1:33 p.m.
Last Modified: 16 Mar 2022, 1:33 p.m.
Copied from panel: Growth failure in early childhood v3.87

Rebecca Foulger (Genomics England curator)

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, demoted this CNV from Green to Red because Clinical Indication R147 will be delivered by panel/exome.
Created: 30 May 2019, 10:02 a.m.
Created: 30 May 2019, 10:02 a.m.

Copied from panel: Growth failure in early childhood v3.87

Details

ISCA ID
ISCA-37429-Loss
ISCA Region Name
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
Chromosome
4
GRCh38 Coordinates
337779-2009235
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
  • ClinGen
  • Expert Review Red
Phenotypes
  • Wolf-Hirschhorn syndrome, OMIM:194190
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

Region: ISCA-37429-Loss was added Region: ISCA-37429-Loss was added to Monogenic short stature. Sources: Expert Review Red,ClinGen Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905 Phenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, OMIM:194190