Early onset or syndromic epilepsy
Region: ISCA-37432-Gain17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
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
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
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.
Haploinsufficiency Score for ISCA-37432-Gain was changed from to None. Source NHS GMS was added to Region: ISCA-37432-Gain.
11th December 2018 After extensive review and curation the Genetic epilepsy sydrome panel is ready to be promoted to Version 1.
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