SAMD9

sterile alpha motif domain containing 9
OMIM: 610456
PanelMode of inheritanceDetails
7 panels
R-numbers: R150
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MIRAGE syndrome, 617053
R-numbers: R91
Signed-off version 1.29
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MIRAGE syndrome, 617053, 617053 MIRAGE syndrome
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy
R-numbers: R146
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MIRAGE syndrome 617053
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MIRAGE syndrome, 617053
R-numbers: R236
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Familial tumoural calcinosis, MIRAGE, NFTC, MIRAGE SYNDROME, TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL