Genetic Epilepsy

Gene: SAMD12

Comment on list classification: Added as an STR to this panel.

Created: 29 Aug 2021, 3:31 a.m. | Last Modified: 29 Aug 2021, 3:31 a.m.

Panel Version: 0.1171

Green List (high evidence)

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: Literature

Created: 20 Apr 2020, 5:34 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

• 30194086
• 29507423

Mode of pathogenicity
Other

Green List (high evidence)

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.
Sources: Literature

Created: 20 Apr 2020, 3:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, familial adult myoclonic, 1 601068

Publications

• 30194086
• 29507423