Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Region: ISCA-46299-Gain

Xp11.22 region (includes HUWE1) Gain

Green List (high evidence)

Chromosome: X
GRCh38 Position: 53334251-53766556
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Sources: Expert list
Created: 24 Jan 2019, 2:33 p.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
X linked intellectual disability (XLID); PMID: 26692240 Mild‐profound intellectual disability, speech delay, failure to thrive, hand abnormalities, motor delay, abnormal palate; PMID:22840365 Mild intellectual disability; PMID:26692240 Region 2 (53,160,114–53,713,154 bp Within Chromosome Xp11.22)

Publications

Details

ISCA ID
ISCA-46299-Gain
ISCA Region Name
Xp11.22 region (includes HUWE1) Gain
Chromosome
X
GRCh38 Coordinates
53334251-53766556
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
  • Expert list
Phenotypes
  • X linked intellectual disability (XLID)
  • PMID: 26692240 Mild‐profound intellectual disability, speech delay, failure to thrive, hand abnormalities, motor delay, abnormal palate
  • PMID:22840365 Mild intellectual disability
  • PMID:26692240 Region 2 (53,160,114–53,713,154 bp Within Chromosome Xp11.22)
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

25 Jan 2019, Gel status: 3

Changed Haploinsufficiency Score, Status Update

Louise Daugherty (Genomics England Curator)

Haploinsufficiency Score for ISCA-46299-Gain was changed from 0 to None. Rating Changed from Green List (high evidence) to Green List (high evidence)

24 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Region: isca-46299-gain has been classified as Green List (High Evidence).

24 Jan 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-46299-Gain was added Region: ISCA-46299-Gain was added to Intellectual disability. Sources: Expert list Mode of inheritance for Region: ISCA-46299-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-46299-Gain were set to 22840365; 20655035; 26692240 Phenotypes for Region: ISCA-46299-Gain were set to X linked intellectual disability (XLID); PMID: 26692240 Mild‐profound intellectual disability, speech delay, failure to thrive, hand abnormalities, motor delay, abnormal palate; PMID:22840365 Mild intellectual disability; PMID:26692240 Region 2 (53,160,114–53,713,154 bp Within Chromosome Xp11.22) Review for Region: ISCA-46299-Gain was set to GREEN