Clefting
Region: ISCA-46303-LossSOX9 upstream enhancer region Loss
Chromosome: 17
GRCh38 Position: 69896855-71796293
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: 69896855-71796293
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)
New green region added based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments: multiple cases in literature - phenotype of Pierre Robin sequence.Created: 2 Feb 2023, 3:25 p.m. | Last Modified: 2 Feb 2023, 3:25 p.m.
Panel Version: 3.6
Details
- ISCA ID
- ISCA-46303-Loss
- ISCA Region Name
- SOX9 upstream enhancer region Loss
- Chromosome
- 17
- GRCh38 Coordinates
- 69896855-71796293
- 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
-
- ClinGen
- Expert Review Green
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
2 Feb 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications
Arina Puzriakova (Genomics England Curator)Region: ISCA-46303-Loss was added Region: ISCA-46303-Loss was added to Clefting. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46303-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46303-Loss were set to 24934569; 26663529; 19234473