Early onset or syndromic epilepsy
Region: ISCA-46304-Gain
Xq28 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

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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: 3.31

Created: 2 Feb 2023, 3:16 p.m.
Last Modified: 2 Feb 2023, 3:16 p.m.
Panel version: 3.31

Details

ISCA ID

ISCA-46304-Gain

ISCA Region Name

Xq28 region (includes MECP2) Gain

Chromosome

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 Genetic epilepsy syndromes. 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

Early onset or syndromic epilepsy Region: ISCA-46304-Gain Xq28 region (includes MECP2) Gain