Diabetes - neonatal onset

Region: ISCA-37442-Gain

6q24 region (includes PLAGL1) Gain

Green List (high evidence)

Chromosome: 6
GRCh38 Position: 143922155-144095424
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-37442-Gain
ISCA Region Name
6q24 region (includes PLAGL1) Gain
Chromosome
6
GRCh38 Coordinates
143922155-144095424
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
  • 601410
  • Transient neonatal diabetes mellitus
  • Transient neonatal diabetes
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-37442-Gain was added Region: ISCA-37442-Gain was added to Neonatal diabetes diagnosed <6 months. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37442-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37442-Gain were set to 10923638; 8842729; 10615957 Phenotypes for Region: ISCA-37442-Gain were set to 601410; Transient neonatal diabetes mellitus; Transient neonatal diabetes