Genomics England

SAMD9

sterile alpha motif domain containing 9

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Congenital adrenal hypoplasia R-numbers: R150 Signed-off version 3.13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MIRAGE syndrome, 617053
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.36	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 5.48	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy
Green in Differences in sex development R-numbers: R146 Signed-off version 4.5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MIRAGE syndrome 617053
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MIRAGE syndrome, 617053
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Familial tumoural calcinosis, MIRAGE, NFTC, MIRAGE SYNDROME, TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.26	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes MIRAGE syndrome, OMIM:617053