1. Panels
  2. Newborns main panel
  3. SAMD9L
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: SAMD9L

Amber List (moderate evidence)
SAMD9L (sterile alpha motif domain containing 9 like)
EnsemblGeneIds (GRCh38): ENSG00000177409
EnsemblGeneIds (GRCh37): ENSG00000177409
OMIM: 611170, Gene2Phenotype
SAMD9L is in 11 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from Green to Amber due to advice from clinical experts.
Created: 26 Jun 2024, 9:09 a.m. | Last Modified: 26 Jun 2024, 9:09 a.m.
Panel Version: 0.460
Created: 26 Jun 2024, 9:09 a.m.
Last Modified: 26 Jun 2024, 9:09 a.m.
Panel version: 0.460

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36880537
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Ataxia pancytopaenia syndrome
Tags
internal_inclusion_list_only
OMIM
611170
Clinvar variants
Variants in SAMD9L
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: samd9l has been classified as Amber List (Moderate Evidence).

13 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SAMD9L were changed from Ataxia pancytopenia syndrome to Ataxia pancytopaenia syndrome

23 Nov 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag internal_inclusion_list_only tag was added to gene: SAMD9L.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ataxia pancytopenia syndrome for gene: SAMD9L

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ataxia pancytopenia syndrome for gene: SAMD9L

31 May 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF was removed from gene: SAMD9L.

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ataxia pancytopenia syndrome for gene: SAMD9L

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Mafalda Gomes (Genomics England Curator)

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

9 May 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ataxia pancytopenia syndrome for gene: SAMD9L

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to SAMD9L. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: SAMD9L was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Mar 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag GOF tag was added to gene: SAMD9L.

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Ataxia pancytopenia syndrome for gene: SAMD9L

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SAMD9L was added gene: SAMD9L was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown