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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

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: OMIM phenotype accessed 9th July 2026
Created: 9 Jul 2026, 2:20 p.m. | Last Modified: 9 Jul 2026, 2:20 p.m.
Panel Version: 4.16
Created: 9 Jul 2026, 2:20 p.m.
Last Modified: 9 Jul 2026, 2:20 p.m.
Panel version: 4.16

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
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
  • Ichthyosis, X-linked, OMIM:308100
  • ichthyosis, MONDO:0019269
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss

History Filter Activity

9 Jul 2026, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for Region: ISCA-37417-Loss were changed from 308100; Ichthyosis, X-linked to Ichthyosis, X-linked, OMIM:308100; ichthyosis, MONDO:0019269

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