Ichthyosis and erythrokeratoderma

Region: ISCA-37417-Loss

Xp22.31 recurrent region (includes STS) Loss

Green List (high evidence)

Chromosome: X
GRCh38 Position: 6537771-8156913
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, 12:59 p.m. | Last Modified: 16 Mar 2022, 12:59 p.m.
Panel Version: 1.72

Details

ISCA ID
ISCA-37417-Loss
ISCA Region Name
Xp22.31 recurrent region (includes STS) Loss
Chromosome
X
GRCh38 Coordinates
6537771-8156913
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
60%
Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • 308100
  • Ichthyosis, X-linked
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-37417-Loss was changed from 6537771-8156914 to 6537771-8156913. Required Overlap Percentage for ISCA-37417-Loss was changed from 80 to 60.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Region: ISCA-37417-Loss was added Region: ISCA-37417-Loss was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for Region: ISCA-37417-Loss were set to 308100; Ichthyosis, X-linked