Genomics England

sterile alpha motif domain containing 9 like

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes 159550 Ataxia-pancytopenia syndrome, Ataxia-pancytopenia syndrome, 159550
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Class: miscellaneous, Ataxia Pancytopenia Syndrome, MDS, AML
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Ataxia-pancytopenia syndrome, 159550
Green in Inherited predisposition to acute myeloid leukaemia (AML) R-numbers: R347 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Monosomy 7 myelodysplasia and leukemia syndrome 1, OMIM:252270
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction, MDS, neurological features, Bone marrow failure, Combined immunodeficiencies with associated or syndromic features