1. Panels
  2. Test panel testing 2020-07-27
  3. ISCA-37390-Loss

Test panel testing 2020-07-27

Region: ISCA-37390-Loss

5p15 terminal (Cri du chat syndrome) region Loss

Green List (high evidence)
Chromosome: 5
GRCh38 Position: 37695-11347150
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: Small variants

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

further review
Created: 27 Jul 2020, 12:18 p.m. | Last Modified: 27 Jul 2020, 12:18 p.m.
Panel Version: 1.8
review, review, reviewed again
Created: 27 Jul 2020, 12:14 p.m. | Last Modified: 27 Jul 2020, 12:15 p.m.
Panel Version: 1.8
Created: 27 Jul 2020, 12:14 p.m.
Last Modified: 27 Jul 2020, 12:15 p.m.
Panel version: 1.8

Eleanor Williams (Genomics England Curator)

adding a comment as a curator
Created: 27 Jul 2020, 11:19 a.m. | Last Modified: 27 Jul 2020, 11:19 a.m.
Panel Version: 0.9
Created: 27 Jul 2020, 11:19 a.m.
Last Modified: 27 Jul 2020, 11:19 a.m.
Panel version: 0.9

Details

ISCA ID
ISCA-37390-Loss
ISCA Region Name
5p15 terminal (Cri du chat syndrome) region Loss
Chromosome
5
GRCh38 Coordinates
37695-11347150
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
  • Expert Review
Tags
cnv
Clinvar variants
Variants in
Penetrance
None
Variant types
Small variants

History Filter Activity

27 Jul 2020, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag cnv tag was added to Region: ISCA-37390-Loss.

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Region: isca-37390-loss has been classified as Green List (High Evidence).

27 Jul 2020, Gel status: 1

Removed Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Other was removed from Region: ISCA-37390-Loss. Source Expert Review was added to Region: ISCA-37390-Loss. Rating Changed from No List (delete) to Red List (low evidence)

27 Jul 2020, Gel status: 0

Clear Sources

Sarah Leigh (Genomics England Curator)

All sources for Region: ISCA-37390-Loss were removed

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Region: isca-37390-loss has been classified as Green List (High Evidence).

27 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance

Reviewer Test (GenomicsEnglandTesting)

Region: ISCA-37390-Loss was added Region: ISCA-37390-Loss was added to Test panel testing 2020-07-27. Sources: Other Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown