SAMD12

sterile alpha motif domain containing 12
Gene2Phenotype

2 panels

Panel	Reviews	Mode of inheritance	Details
Amber SAMD12 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epilepsy, familial adult myoclonic, 1, OMIM:601068 epilepsy, familial adult myoclonic, 1, MONDO:0010985 Tags STR
Red SAMD12_TTTCA STR in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Literature Phenotypes Epilepsy, familial adult myoclonic, 1, OMIM:601068 epilepsy, familial adult myoclonic, 1, MONDO:0010985 Tags STR NGS Not Validated

Panel

Reviews

Mode of inheritance

Details

Level 2: Neurology
Version 8.125
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

Paediatric disorders

Unexplained death in infancy and sudden unexplained death in childhood

review

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Level 2: Neurology
Version 8.125
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

Paediatric disorders

Unexplained death in infancy and sudden unexplained death in childhood

review

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal