SAMD12

sterile alpha motif domain containing 12
Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
No list SAMD12 in Mendeliome Version 1.2511	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Removed Literature Phenotypes Epilepsy, familial adult myoclonic, 1 601068 Tags STR deep intronic
No list SAMD12 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.145 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Removed Literature Literature Phenotypes Epilepsy, familial adult myoclonic, 1, MIM# 601068 Tags STR deep intronic
Green SAMD12_FAME1_TTTCA STR in Mendeliome Version 1.2511	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, familial adult myoclonic, 1 MIM#601068
Green SAMD12_FAME1_TTTCA STR in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.145 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, familial adult myoclonic, 1 MIM#601068
Green SAMD12_FAME1_TTTCA STR in Repeat Disorders Version 0.256	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, familial adult myoclonic, 1 MIM#601068 Tags adult-onset
Red SAMD12_FAME1_TTTGA STR in Repeat Disorders Version 0.256	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes familial cortical myoclonic tremor with epilepsy