Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel

Common deletion and duplication syndromes

Region: ISCA-37417-Loss

Ichthyosis, X-linked, STS deletion

Green List (high evidence)

Chromosome: X
GRCh38 Position: 6537771-8156914
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established CNV.
Sources: Expert list
Created: 7 Dec 2020, 9 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Ichthyosis, X-linked, MIM# 308100

Details

ISCA ID
ISCA-37417-Loss
ISCA Region Name
Ichthyosis, X-linked, STS deletion
Chromosome
X
GRCh38 Coordinates
6537771-8156914
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
80%
Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ichthyosis, X-linked, MIM# 308100
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss

History Filter Activity

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37417-loss has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37417-loss has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: ISCA-37417-Loss was added Region: ISCA-37417-Loss was added to Common deletion and duplication syndromes. Sources: Expert list 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 Ichthyosis, X-linked, MIM# 308100 Review for Region: ISCA-37417-Loss was set to GREEN