Congenital myopathy
Region: ISCA-37429-Loss4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
Chromosome: 4
GRCh38 Position: 337779-2009235
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss
GRCh38 Position: 337779-2009235
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss
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, 1:32 p.m. | Last Modified: 16 Mar 2022, 1:32 p.m.
Panel Version: 2.80
Details
- ISCA ID
- ISCA-37429-Loss
- ISCA Region Name
- 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
- Chromosome
- 4
- GRCh38 Coordinates
- 337779-2009235
- Haploinsufficiency Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Triplosensitivity Score
- Required percent of overlap
- 60%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- ClinGen
- Phenotypes
-
- Wolf-Hirschhorn syndrome, OMIM:194190
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
7 Feb 2023, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for Region: ISCA-37429-Loss were changed from 194190; Wolf-Hirschhorn syndrome to Wolf-Hirschhorn syndrome, OMIM:194190
16 Mar 2022, Gel status: 3
Changed Required Overlap Percentage
Arina Puzriakova (Genomics England Curator)Required Overlap Percentage for ISCA-37429-Loss was changed from 80 to 60.
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-37429-Loss was added Region: ISCA-37429-Loss was added to Congenital myopathy. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905 Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome