Autosomal recessive congenital ichthyosis

Region: ISCA-37417-Loss

Xp22.31 recurrent region (includes STS) Loss

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

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Details

ISCA ID
ISCA-37417-Loss
ISCA Region Name
Xp22.31 recurrent region (includes STS) Loss
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
  • ClinGen
Phenotypes
  • Ichthyosis, X-linked
  • 308100
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss

History Filter Activity

7 Sep 2018, Gel status: 4

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-37417-Loss was added Region: ISCA-37417-Loss was added to Autosomal recessive congenital ichthyosis. Sources: ClinGen,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 Ichthyosis, X-linked; 308100