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Autosomal recessive congenital ichthyosis
Region: ISCA-37417-LossXp22.31 recurrent region (includes STS) Loss
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
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: 1.14
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
- ClinGen
- Phenotypes
-
- Ichthyosis, X-linked
- 308100
- 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.
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