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  3. ISCA-46290-Gain
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Early onset or syndromic epilepsy

Region: ISCA-46290-Gain

Xp11.22p11.23 recurrent region (includes SHROOM4) Gain

Green List (high evidence)
Chromosome: X
GRCh38 Position: 48447780-52444264
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 60%
Variant types: CNV Gain

2 reviews

Ivone Leong (Genomics England Curator)

The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 12:24 p.m. | Last Modified: 16 Mar 2022, 12:24 p.m.
Panel Version: 2.500
Created: 16 Mar 2022, 12:24 p.m.
Last Modified: 16 Mar 2022, 12:24 p.m.
Panel version: 2.500

Rebecca Foulger (Genomics England curator)

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested rating: Green.
Created: 15 Aug 2019, 2:45 p.m. | Last Modified: 15 Aug 2019, 2:45 p.m.
Panel Version: 1.239
Created: 15 Aug 2019, 2:45 p.m.
Last Modified: 15 Aug 2019, 2:45 p.m.
Panel version: 1.239

Details

ISCA ID
ISCA-46290-Gain
ISCA Region Name
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
Chromosome
X
GRCh38 Coordinates
48447780-52444264
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, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep
  • 300801
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

16 Mar 2022, Gel status: 3

Changed GRCh38, Changed Haploinsufficiency Score, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-46290-Gain was changed from 48447780-52444265 to 48447780-52444264. Haploinsufficiency Score for ISCA-46290-Gain was changed from None to . Required Overlap Percentage for ISCA-46290-Gain was changed from 80 to 60.

15 Aug 2019, Gel status: 3

Changed Haploinsufficiency Score, Added New Source

Rebecca Foulger (Genomics England curator)

Haploinsufficiency Score for ISCA-46290-Gain was changed from to None. Source NHS GMS was added to Region: ISCA-46290-Gain.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

11th December 2018 After extensive review and curation the Genetic epilepsy sydrome panel is ready to be promoted to Version 1.

17 Sep 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Region: ISCA-46290-Gain was added Region: ISCA-46290-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: ISCA-46290-Gain were set to 25425167; 19716111; 21418194 Phenotypes for Region: ISCA-46290-Gain were set to Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep; 300801