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This Panel is marked as Internal
DEMO Diabetes neonatal onset
Region: ISCA-37442-Gain6q24 region (includes PLAGL1) Gain
Chromosome: 6
GRCh38 Position: 143922155-144095424
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 60%
Variant types: CNV Gain
GRCh38 Position: 143922155-144095424
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 60%
Variant types: CNV Gain
1 review
Arina Puzriakova (Genomics England Curator)
The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 1:17 p.m. | Last Modified: 16 Mar 2022, 1:17 p.m.
Panel Version: 1.4
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
- 60%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- ClinGen
- Expert Review Green
- Phenotypes
-
- 601410
- Transient neonatal diabetes
- Transient neonatal diabetes mellitus
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- Publications
History Filter Activity
16 Mar 2022, Gel status: 3
Changed Haploinsufficiency Score, Changed Required Overlap Percentage
Arina Puzriakova (Genomics England Curator)Haploinsufficiency Score for ISCA-37442-Gain was changed from to None. Required Overlap Percentage for ISCA-37442-Gain was changed from 80 to 60.
2 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)Region: ISCA-37442-Gain was added Region: ISCA-37442-Gain was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,ClinGen 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 8842729; 10615957; 10923638 Phenotypes for Region: ISCA-37442-Gain were set to 601410; Transient neonatal diabetes; Transient neonatal diabetes mellitus