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Intellectual disability

Region: ISCA-37494-Loss

Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss

Green List (high evidence)

Chromosome: X
GRCh38 Position: 154890328-155335092
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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Sources: Expert list
Created: 24 Jan 2019, 2:39 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
PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features; deletion results in skewed chromosome X inactivation and no clinical phenotype in females; PMID: 21984752 in utero male lethality with deletions

Publications

Details

ISCA ID
ISCA-37494-Loss
ISCA Region Name
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss
Chromosome
X
GRCh38 Coordinates
154890328-155335092
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
  • PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features
  • deletion results in skewed chromosome X inactivation and no clinical phenotype in females
  • PMID: 21984752 in utero male lethality with deletions
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

28 Jan 2019, Gel status: 3

Changed Triplosensitivity Score, Status Update

Louise Daugherty (Genomics England Curator)

Triplosensitivity Score for ISCA-37494-Loss was changed from 3 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-37494-loss 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-37494-Loss was added Region: ISCA-37494-Loss was added to Intellectual disability. Sources: Expert list Mode of inheritance for Region: ISCA-37494-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-37494-Loss were set to 25927380; 21984752 Phenotypes for Region: ISCA-37494-Loss were set to PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features; deletion results in skewed chromosome X inactivation and no clinical phenotype in females; PMID: 21984752 in utero male lethality with deletions Review for Region: ISCA-37494-Loss was set to GREEN