Ataxia and cerebellar anomalies - narrow panel
Region: ISCA-46553-Loss3q24 Region (includes ZIC1) Loss
Chromosome: 3
GRCh38 Position: 136684193-148623326
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: 136684193-148623326
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: At least 11 patients reported plus supportive mouse model. Main phenotype is Dandy Walker malformation.Created: 2 Feb 2023, 3:24 p.m. | Last Modified: 2 Feb 2023, 3:24 p.m.
Panel Version: 3.28
Details
- ISCA ID
- ISCA-46553-Loss
- ISCA Region Name
- 3q24 Region (includes ZIC1) Loss
- Chromosome
- 3
- GRCh38 Coordinates
- 136684193-148623326
- 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-46553-Loss was added Region: ISCA-46553-Loss was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46553-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46553-Loss were set to 21204220; 15338008; 22067867; 21471554; 28503614