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  3. SAMD9L
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Ataxia - adult onset

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)

In addition to families with ataxia-pancytopenia syndrome, recent report (PMID 35310830) of multiplex family with isolated SCA and novel missense, animal model.
Created: 9 Apr 2022, 3:07 a.m. | Last Modified: 9 Apr 2022, 3:07 a.m.
Panel Version: 0.157

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 49, MIM# 619806; Ataxia-pancytopaenia syndrome, MIM# 159550

Publications

Created: 9 Apr 2022, 3:07 a.m.
Last Modified: 9 Apr 2022, 3:07 a.m.
Panel version: 0.157

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spinocerebellar ataxia 49, MIM# 619806
  • Ataxia-pancytopaenia syndrome, MIM# 159550
OMIM
611170
Clinvar variants
Variants in SAMD9L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2022, 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).

9 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SAMD9L were changed from Ataxia-pancytopenia syndrome, 159550 to Spinocerebellar ataxia 49, MIM# 619806; Ataxia-pancytopaenia syndrome, MIM# 159550

9 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SAMD9L were set to

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SAMD9L was added gene: SAMD9L was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, 159550