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Childhood onset hereditary spastic paraplegia
Region: ISCA-46304-GainXq28 region (includes MECP2) Gain
Chromosome: X
GRCh38 Position: 154008529-154110279
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: 154008529-154110279
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)
New green region added based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments from Genomics England clinical team: 'Cases are most likely to present with the developmental / hypotonia / seizure presentation. Inclusion on ID panel will allow it to be present on Hypotonic infant super panel too.'Created: 2 Feb 2023, 3:16 p.m. | Last Modified: 2 Feb 2023, 3:16 p.m.
Panel Version: 3.10
Details
- ISCA ID
- ISCA-46304-Gain
- ISCA Region Name
- Xq28 region (includes MECP2) Gain
- Chromosome
- X
- GRCh38 Coordinates
- 154008529-154110279
- Haploinsufficiency Score
- Triplosensitivity Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Required percent of overlap
- 60%
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- ClinGen
- Expert Review Green
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- 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-46304-Gain was added Region: ISCA-46304-Gain was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46304-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for Region: ISCA-46304-Gain were set to 22679399; 29141583; 29618507; 32043567