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  3. SAMD9
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Bone Marrow Failure

Gene: SAMD9

Green List (high evidence)
SAMD9 (sterile alpha motif domain containing 9)
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four molecularly confirmed individuals from three families. Anaemia, thrombocytopaenia, leukopaenia and recurrent infections.
Sources: Expert list
Created: 10 Jan 2020, 3:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MIRAGE syndrome, MIM#617053

Publications

Created: 10 Jan 2020, 3:42 a.m.

Panel version: 0.17

History Filter Activity

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: samd9 has been classified as Green List (High Evidence).

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: samd9 has been classified as Green List (High Evidence).

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: samd9 has been classified as Green List (High Evidence).

10 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SAMD9 was added gene: SAMD9 was added to Bone Marrow Failure_VCGS. Sources: Expert list Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SAMD9 were set to 27182967 Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM#617053 Review for gene: SAMD9 was set to GREEN