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Intellectual disability

Region: ISCA-37430-Gain

17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain

Green List (high evidence)

Chromosome: 17
GRCh38 Position: 1344539-2685615
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-37430-Gain
ISCA Region Name
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain
Chromosome
17
GRCh38 Coordinates
1344539-2685615
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
  • 613215
  • Chromosome 17p13.3 duplication syndrome
  • variable psychomotor delay and dysmorphic features
  • 17q11.2 microduplication syndrome
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-37430-Gain was added Region: ISCA-37430-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37430-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37430-Gain were set to 23813913; 19520700; 19136950 Phenotypes for Region: ISCA-37430-Gain were set to 613215; Chromosome 17p13.3 duplication syndrome; variable psychomotor delay and dysmorphic features; 17q11.2 microduplication syndrome