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| Skeletal dysplasia v3.5 | CSNK1G1 | Eleanor Williams Tag Q1_22_rating was removed from gene: CSNK1G1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v3.5 | CSNK1G1 | Eleanor Williams reviewed gene: CSNK1G1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.206 | CSNK1G1 | Sarah Leigh Tag gene-checked tag was added to gene: CSNK1G1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.170 | CSNK1G1 | Sarah Leigh Classified gene: CSNK1G1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.170 | CSNK1G1 | Sarah Leigh Gene: csnk1g1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.169 | CSNK1G1 |
Sarah Leigh gene: CSNK1G1 was added gene: CSNK1G1 was added to Skeletal dysplasia. Sources: NHS GMS Q1_22_rating tags were added to gene: CSNK1G1. Mode of inheritance for gene: CSNK1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSNK1G1 were set to 24463883; 33009664 Phenotypes for gene: CSNK1G1 were set to early-onset epileptic encephalopathy and microcephaly Review for gene: CSNK1G1 was set to AMBER Added comment: Not associated with relevant phenotype in OMIM and as limited evidence on Gen2Phen for association with early-onset epileptic encephalopathy and microcephaly. NHS Genomic Medicine Service review of CSNK1G1 on the Intellectual disability panel, recommended that CSNK1G1 should be made amber / green on the skeletal dysplasia panel; as skeletal features were reported in 2/5 reported cases (PMID: 33009664)TL. Sources: NHS GMS |
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