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Genetic epilepsy syndromes

Gene: SAMD12

No list

SAMD12 (sterile alpha motif domain containing 12)
EnsemblGeneIds (GRCh38): ENSG00000177570
EnsemblGeneIds (GRCh37): ENSG00000177570
SAMD12 is in 2 panels

1 review

Zornitza Stark (Australian Genomics)

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: 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
Phenotypes
  • Epilepsy, familial adult myoclonic, 1, MIM# 601068
Clinvar variants
Variants in SAMD12
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

23 Apr 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Australian Genomics)

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