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Ataxia and cerebellar anomalies - narrow panel

Region: ISCA-37478-Gain

15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain

Green List (high evidence)

Chromosome: 15
GRCh38 Position: 23513243-28312040
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain

0 reviews

Details

ISCA ID
ISCA-37478-Gain
ISCA Region Name
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
Chromosome
15
GRCh38 Coordinates
23513243-28312040
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
Phenotypes
  • autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
  • hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636
  • chromosome 15q11-q13 duplication syndrome
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Region: ISCA-37478-Gain was added Region: ISCA-37478-Gain was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Gain were set to 16840569; 9106540; 18374305 Phenotypes for Region: ISCA-37478-Gain were set to autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome