Early onset or syndromic epilepsy
Region: ISCA-46297-Loss
16p12.2 recurrent region (distal)(includes OTOA) Loss

Chromosome: 16
GRCh38 Position: 21558792-21729102
Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

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.
Created: 2 Feb 2023, 3:19 p.m. | Last Modified: 2 Feb 2023, 3:19 p.m.

Panel Version: 3.31

Created: 2 Feb 2023, 3:19 p.m.
Last Modified: 2 Feb 2023, 3:19 p.m.
Panel version: 3.31

Details

ISCA ID

ISCA-46297-Loss

ISCA Region Name

16p12.2 recurrent region (distal)(includes OTOA) Loss

Chromosome

GRCh38 Coordinates

21558792-21729102

Haploinsufficiency Score

Gene associated with autosomal recessive 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-46297-Loss was added Region: ISCA-46297-Loss was added to Genetic epilepsy syndromes. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46297-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46297-Loss were set to 31204719; 19888295; 20301607; 25719193; 30836598

Early onset or syndromic epilepsy Region: ISCA-46297-Loss 16p12.2 recurrent region (distal)(includes OTOA) Loss