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  3. SAMD9L
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IBMDx study

Gene: SAMD9L

Green List (high evidence)
SAMD9L (sterile alpha motif domain containing 9 like)
EnsemblGeneIds (GRCh38): ENSG00000177409
EnsemblGeneIds (GRCh37): ENSG00000177409
OMIM: 611170, Gene2Phenotype
SAMD9L is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism.
Sources: Expert list
Created: 6 Apr 2020, 2:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ataxia-pancytopenia syndrome, MIM# 159550

Publications

Mode of pathogenicity
Other

Created: 6 Apr 2020, 2:30 a.m.

Panel version: Imported from Bone Marrow Failure panel version 0.53

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Ataxia-pancytopenia syndrome, MIM# 159550
OMIM
611170
Clinvar variants
Variants in SAMD9L
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SAMD9L was added gene: SAMD9L was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: SAMD9L was set to Unknown Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550