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Early onset or syndromic epilepsy

Region: ISCA-37432-Gain

17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain

Green List (high evidence)
Chromosome: 17
GRCh38 Position: 36458167-37854616
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

Arina Puzriakova (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, 1:07 p.m. | Last Modified: 16 Mar 2022, 1:07 p.m.
Panel Version: 2.500
Created: 16 Mar 2022, 1:07 p.m.
Last Modified: 16 Mar 2022, 1:07 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, 2:43 p.m. | Last Modified: 15 Aug 2019, 2:43 p.m.
Panel Version: 1.239
Created: 15 Aug 2019, 2:43 p.m.
Last Modified: 15 Aug 2019, 2:43 p.m.
Panel version: 1.239

Details

ISCA ID
ISCA-37432-Gain
ISCA Region Name
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
Chromosome
17
GRCh38 Coordinates
36458167-37854616
Haploinsufficiency Score
Triplosensitivity Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap
60%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • ClinGen
Phenotypes
  • developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia
  • Speech and language delay
  • Seizures (not all)
  • Chromosome 17q12 duplication syndrome
  • 614526
  • Behavioural difficulties
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain

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-37432-Gain was changed from 36458167-37854617 to 36458167-37854616. Haploinsufficiency Score for ISCA-37432-Gain was changed from None to . Required Overlap Percentage for ISCA-37432-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-37432-Gain was changed from to None. Source NHS GMS was added to Region: ISCA-37432-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.

7 Sep 2018, Gel status: 4

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-37432-Gain was added Region: ISCA-37432-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37432-Gain were set to developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia; Speech and language delay; Seizures (not all); Chromosome 17q12 duplication syndrome; 614526; Behavioural difficulties