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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
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
Early onset or syndromic epilepsy NHLRC1 Zornitza Stark reviewed gene: NHLRC1
Early onset or syndromic epilepsy NHLRC1 Sarah Leigh Added gene to panel