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  3. SAMD9L
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BabyScreen+ newborn screening

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.

Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. The germline genetic defect is associated with somatic loss of chromosome 7 (monosomy 7) resulting in the deletion of several genes on chromosome 7 that may predispose to the development of myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML).

Treatment: BMT.

Non-genetic confirmatory testing: no.
Sources: Expert list
Created: 23 Mar 2023, 8:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ataxia-pancytopenia syndrome, MIM# 159550

Publications

Created: 23 Mar 2023, 8:15 a.m.

Panel version: 0.2060

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ataxia-pancytopenia syndrome, MIM# 159550
Tags
treatable immunological haematological
OMIM
611170
Clinvar variants
Variants in SAMD9L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: samd9l has been classified as Green List (High Evidence).

23 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: samd9l has been classified as Green List (High Evidence).

23 Mar 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SAMD9L was added gene: SAMD9L was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological, haematological tags were added to gene: SAMD9L. Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SAMD9L were set to 31306780 Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550 Review for gene: SAMD9L was set to GREEN