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Early onset or syndromic epilepsy v2.518 | CSNK1G1 | Sarah Leigh Tag gene-checked tag was added to gene: CSNK1G1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.489 | CSNK1G1 |
Sarah Leigh changed review comment from: Comment on list classification: NHS Genomic Medicine Service review of CSNK1G1 on the Intellectual disability panel, recommended that CSNK1G1 should be made amber on the Genetic epilepsy syndromes panel; as epilepsy was seen in 2/5 reported cases (PMID: 33009664). Amber for epilepsy panel R59 review of on the Intellectual disability; to: Comment on list classification: NHS Genomic Medicine Service review of CSNK1G1 on the Intellectual disability panel, recommended that CSNK1G1 should be made amber on the Genetic epilepsy syndromes panel; as epilepsy was seen in 2/5 reported cases (PMID: 33009664). |
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Early onset or syndromic epilepsy v2.489 | CSNK1G1 | Sarah Leigh Publications for gene: CSNK1G1 were set to 24463883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.488 | CSNK1G1 | Sarah Leigh Classified gene: CSNK1G1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.488 | CSNK1G1 |
Sarah Leigh Added comment: Comment on list classification: NHS Genomic Medicine Service review of CSNK1G1 on the Intellectual disability panel, recommended that CSNK1G1 should be made amber on the Genetic epilepsy syndromes panel; as epilepsy was seen in 2/5 reported cases (PMID: 33009664). Amber for epilepsy panel R59 review of on the Intellectual disability |
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Early onset or syndromic epilepsy v2.488 | CSNK1G1 | Sarah Leigh Gene: csnk1g1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.239 | CSNK1G1 | Arina Puzriakova Mode of inheritance for gene: CSNK1G1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.191 | CSNK1G1 | Rebecca Foulger Source Wessex and West Midlands GLH was added to CSNK1G1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.190 | CSNK1G1 | Rebecca Foulger Source NHS GMS was added to CSNK1G1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.189 | CSNK1G1 | Rebecca Foulger reviewed gene: CSNK1G1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.188 | CSNK1G1 | Tracy Lester reviewed gene: CSNK1G1: Rating: RED; Mode of pathogenicity: ; Publications: 24463883; Phenotypes: severe early-onset epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.483 | CSNK1G1 | Sarah Leigh Publications for gene: CSNK1G1 were set to 24463883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.482 | CSNK1G1 | Sarah Leigh Marked gene: CSNK1G1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.482 | CSNK1G1 | Sarah Leigh Gene: csnk1g1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v0.482 | CSNK1G1 | Sarah Leigh Publications for gene: CSNK1G1 were set to Martin et al (2014) Hum Mol Genet 23(12).3200-3211 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy | CSNK1G1 | Sarah Leigh reviewed CSNK1G1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy | CSNK1G1 | Sarah Leigh Added gene to panel |