Genomics England
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Panels
Genes and Entities
ALKBH8
alkB homolog 8, tRNA methyltransferase
OMIM:
613306
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Panel
Mode of inheritance
Details
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Genetic epilepsy syndromes
R-numbers:
R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder, autosomal recessive 71, OMIM:618504