Skeletal dysplasia
Gene: CSNK1G1
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsamber. The reviewers note that the 2/5 individuals referred to in the review have very mild skeletal phenotype and is not primary phenotype. The mutations aren't entirely convincing either. Whilst both de novo, one is missense and one is stop which removes last 4 residues of protein.Created: 30 Jan 2023, 2:18 p.m. | Last Modified: 30 Jan 2023, 2:18 p.m.
Panel Version: 3.5
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 GMSCreated: 3 Feb 2022, 3:34 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
early-onset epileptic encephalopathy and microcephaly
Publications
Tag Q1_22_rating was removed from gene: CSNK1G1.
Tag gene-checked tag was added to gene: CSNK1G1.
Gene: csnk1g1 has been classified as Amber List (Moderate Evidence).
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