Genomics England
GMS Panels
Panels
Genes and Entities
TMEM126A
transmembrane protein 126A
OMIM:
612988
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
Green
in
Optic neuropathy
R-numbers:
R41
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Optic Atrophy, Recessive, Optic atrophy 7, 612989