Early onset or syndromic epilepsy
Gene: SAMD12
SAMD12 short tandem repeat variants have been associated with Epilepsy, familial adult myoclonic, 1 (OMIM:601068), but no phenotype was associated SAMD12 in Gen2Phen. The SAMD12 STR will be added to PanelApp after the variant details have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 22 Jun 2023, noon | Last Modified: 22 Jun 2023, noon
Panel Version: 4.55
Repeat expansions of intronic TTTCA and TTTTA motifs within SAMD12 have been identified in over 50 Japanese and Chinese families. Most families with affected individuals were heterozygous however 4 patients from 3 families had homozygous repeat expansions, which was associated with a more severe phenotype. Western blot analysis showed decreased levels of the protein in patient brains. Note these were identified on long-read sequencing and may not be detectable by all assays.
Sources: LiteratureCreated: 23 Apr 2020, 3:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Epilepsy, familial adult myoclonic, 1, MIM# 601068
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: SAMD12 were set to 30194086; 29507423; 29939203; 32203200
Phenotypes for gene: SAMD12 were changed from Epilepsy, familial adult myoclonic, 1, MIM# 601068 to Epilepsy, familial adult myoclonic, 1, OMIM:601068; epilepsy, familial adult myoclonic, 1, MONDO:0010985
Publications for gene: SAMD12 were set to 30194086; 29507423
Gene: samd12 has been classified as Amber List (Moderate Evidence).
Tag STR tag was added to gene: SAMD12.
gene: SAMD12 was added gene: SAMD12 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: SAMD12 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SAMD12 were set to 30194086; 29507423 Phenotypes for gene: SAMD12 were set to Epilepsy, familial adult myoclonic, 1, MIM# 601068 Mode of pathogenicity for gene: SAMD12 was set to Other Review for gene: SAMD12 was set to GREEN gene: SAMD12 was marked as current diagnostic