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Intellectual disability

Region: ISCA-37439-Gain

Xq28 recurrent region (includes GDI1) Gain

Green List (high evidence)

Chromosome: X
GRCh38 Position: 154336276-154660745
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain

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Details

ISCA ID
ISCA-37439-Gain
ISCA Region Name
Xq28 recurrent region (includes GDI1) Gain
Chromosome
X
GRCh38 Coordinates
154336276-154660745
Haploinsufficiency Score
Triplosensitivity Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
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
  • ClinGen
Phenotypes
  • 28300815
  • Chromosome Xq duplication syndrome
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

7 Sep 2018, Gel status: 4

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-37439-Gain was added Region: ISCA-37439-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37439-Gain 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-37439-Gain were set to 17546640; 20004760; 18047645 Phenotypes for Region: ISCA-37439-Gain were set to 28300815; Chromosome Xq duplication syndrome