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Early onset or syndromic epilepsy v1.191 | NHLRC1 | Rebecca Foulger Source Wessex and West Midlands GLH was added to NHLRC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.190 | NHLRC1 | Rebecca Foulger Source NHS GMS was added to NHLRC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.189 | NHLRC1 | Rebecca Foulger reviewed gene: NHLRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.188 | NHLRC1 | Tracy Lester reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15781812 , 21505799; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora), 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.565 | NHLRC1 | Sarah Leigh Publications for gene: NHLRC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.564 | NHLRC1 | Sarah Leigh Phenotypes for gene: NHLRC1 were changed from to Epilepsy, progressive myoclonic 2B (Lafora) 254780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.563 | NHLRC1 | Sarah Leigh Classified gene: NHLRC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.563 | NHLRC1 | Sarah Leigh Gene: nhlrc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.505 | NHLRC1 | Sarah Leigh Marked gene: NHLRC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.505 | NHLRC1 | Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 7 variants identified in unrelated cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.505 | NHLRC1 | Sarah Leigh Gene: nhlrc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.500 | NHLRC1 |
Sarah Leigh Source NIHRBR-RD Consortium SPEED_v3.0_20170404 was removed from NHLRC1. Source Expert was removed from NHLRC1. Source Victorian Clinical Genetics Services was removed from NHLRC1. Source Emory Genetics Laboratory was added to NHLRC1. Mode of inheritance for gene NHLRC1 was changed from to BIALLELIC, autosomal or pseudoautosomal |
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Early onset or syndromic epilepsy v0.500 | NHLRC1 |
Sarah Leigh Source NIHRBR-RD Consortium SPEED_v3.0_20170404 was removed from NHLRC1. Source Expert was removed from NHLRC1. Source Victorian Clinical Genetics Services was removed from NHLRC1. Source Emory Genetics Laboratory was added to NHLRC1. Mode of inheritance for gene NHLRC1 was changed from to BIALLELIC, autosomal or pseudoautosomal |
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Early onset or syndromic epilepsy | NHLRC1 | Zornitza Stark reviewed gene: NHLRC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy | NHLRC1 | Sarah Leigh Added gene to panel |