Genes in panel
Prev Next
Regions in panel

Intellectual disability

Region: ISCA-37494-Gain

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

Green List (high evidence)

Chromosome: X
GRCh38 Position: 154890328-155335092
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, 2:43 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
Chromosome Xq28 duplication syndrome, 300815; X linked intellectual disability (XLID); PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features; duplication affects males with a recognizable syndrome, females exhibiting milder phenotypes; PMID:21984752 behavioural abnormalities (hyperactivity and aggressiveness), characteristic facial features (high forehead, upper eyelid fullness, broad nasal bridge and thick lower lip); PMID:24357492 Cognitive impairment in male patients

Publications

Details

ISCA ID
ISCA-37494-Gain
ISCA Region Name
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain
Chromosome
X
GRCh38 Coordinates
154890328-155335092
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
Phenotypes
  • Chromosome Xq28 duplication syndrome, 300815
  • X linked intellectual disability (XLID)
  • PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features
  • duplication affects males with a recognizable syndrome, females exhibiting milder phenotypes
  • PMID:21984752 behavioural abnormalities (hyperactivity and aggressiveness), characteristic facial features (high forehead, upper eyelid fullness, broad nasal bridge and thick lower lip)
  • PMID:24357492 Cognitive impairment in male patients
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

29 Jan 2019, Gel status: 3

Changed Haploinsufficiency Score, Status Update

Louise Daugherty (Genomics England Curator)

Haploinsufficiency Score for ISCA-37494-Gain 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-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-37494-Gain was added Region: ISCA-37494-Gain was added to Intellectual disability. Sources: Expert list Mode of inheritance for Region: ISCA-37494-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-37494-Gain were set to 25927380; 21984752; 24357492 Phenotypes for Region: ISCA-37494-Gain were set to Chromosome Xq28 duplication syndrome, 300815; X linked intellectual disability (XLID); PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features; duplication affects males with a recognizable syndrome, females exhibiting milder phenotypes; PMID:21984752 behavioural abnormalities (hyperactivity and aggressiveness), characteristic facial features (high forehead, upper eyelid fullness, broad nasal bridge and thick lower lip); PMID:24357492 Cognitive impairment in male patients Review for Region: ISCA-37494-Gain was set to GREEN