Common deletion and duplication syndromes
Region: ISCA-37417-LossIchthyosis, X-linked, STS deletion
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)
Well established CNV.
Sources: Expert listCreated: 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
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).
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).
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