MYO5A

PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ELEJALDE SYNDROME 256710, GRISCELLI SYNDROME TYPE 3 609227
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Griscelli syndrome, type 1, 214450, ELEJALDE SYNDROME (ELEJAS)
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GRISCELLI SYNDROME, TYPE 1, GS1, Griscelli syndrome