Common deletion and duplication syndromes
Region: ISCA-37468-LossChromosome Xp11.3 deletion syndrome
GRCh38 Position: 43654906-43882474
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Contiguous gene deletion syndrome, RP2 responsible for retinal dystrophy. ID not observed in individuals with deletions involving RP2 and ZNF630, arguing against involvement of ZNF630 in the ID component observed with larger deletions.Created: 1 Dec 2020, 6:14 a.m. | Last Modified: 1 Dec 2020, 6:14 a.m.
Panel Version: 0.47
Phenotypes
Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy
Elena Savva (Victorian Clinical Genetics Services)
Established CNV
One-third of XL retinal dystrophies are accounted for by RP2 mutations at the Xp11.23 locus.
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation
Sources: Expert listCreated: 1 Dec 2020, 5:46 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Chromosome Xp11.3 deletion syndrome MIM#300578
Publications
Details
- ISCA ID
- ISCA-37468-Loss
- ISCA Region Name
- Chromosome Xp11.3 deletion syndrome
- Chromosome
- X
- GRCh38 Coordinates
- 43654906-43882474
- 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Chromosome Xp11.3 deletion syndrome MIM#300578
- intellectual disability
- retinal dystrophy
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to Region: ISCA-37468-Loss.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37468-loss has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578 to Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37468-loss has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for Region: ISCA-37468-Loss were set to PMID: 22126752; 16385466; 20186789 Phenotypes for Region: ISCA-37468-Loss were set to Chromosome Xp11.3 deletion syndrome MIM#300578 Review for Region: ISCA-37468-Loss was set to GREEN