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Intellectual disability

Region: ISCA-37425-Gain

5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain

Green List (high evidence)

Chromosome: 5
GRCh38 Position: 176301975-177586960
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-37425-Gain
ISCA Region Name
5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
Chromosome
5
GRCh38 Coordinates
176301975-177586960
Haploinsufficiency Score
Triplosensitivity Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Microcephaly, short stature and developmental delay
  • short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated.
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-37425-Gain was added Region: ISCA-37425-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37425-Gain were set to 23913520; 23599694 Phenotypes for Region: ISCA-37425-Gain were set to Microcephaly, short stature and developmental delay; short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated.