Rebecca Foulger edited their review of gene: SAMHD1: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review plus Confirmed DD-G2P gene for Aicardi-Goutieres syndrome, which can present with seizures. 2 seizures reported in patients with SAMHD1 variants in PMID:29239743. Plus seizures are a common phenotype of AGS (PMID:29239743 and PMID:25604658), and since variants in SAMHD1 are a known cause of AGS, it is reasonable to include SAMHD1 on the panel. PMID:30275001 also provide support with one pathogenic and one VUS SAMHD1 variant reported in a Japanese girl with seizures.
Rebecca Foulger commented on gene: SAMHD1: PMID:30275001 (Haskell et al 2018) report a 4 year old girl with global developmental delay and seizures. WES identified two candidate causative pathogenic variants in SAMHD1: c.602T>A p.I201N (previously reported as pathogenic) and c.1293A>T p.L431F (a VUS).
Rebecca Foulger commented on gene: SAMHD1: Rice et al., 2009 (PMID:19525956): In 13 families from varying places (Hungarian, Maltese, French, Pakistani, Canadian, Moroccon, Indian, Arab, Ashenzai, Fijan) they identified homozygous or compound heterozygous variants in the SAMHD1 gene. Some families were consanguineous. Detailed phenotypes for the individuals were not listed.
Rebecca Foulger commented on gene: SAMHD1: PMID:25604658 (Crow et al. 2015) reported on 374 patients from 299 families with symptoms including seizures in 140 patients. Biallelic SAMHD1 variants were recorded in 38 families, and one heterozygous SAMHD1 variant (p.Ile201Asn) was found in 1 family.