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Intellectual disability

Gene: SAMD9L

Red List (low evidence)

SAMD9L (sterile alpha motif domain containing 9 like)
EnsemblGeneIds (GRCh38): ENSG00000177409
EnsemblGeneIds (GRCh37): ENSG00000177409
OMIM: 611170, Gene2Phenotype
SAMD9L is in 10 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype, but nothing related to ID. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red status.
Created: 14 Jul 2021, 12:37 p.m. | Last Modified: 14 Jul 2021, 12:37 p.m.
Panel Version: 3.1183

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Missense variant reported de novo in a patient with moderate ID, in a large cohort study. Authors described it as a phenotype expansion as ataxia-pancytopenia not found in that patient.
Sources: Literature
Created: 8 Jul 2021, 8:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability

Publications

Details

History Filter Activity

14 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: samd9l has been classified as Red List (Low Evidence).

14 Jul 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SAMD9L were changed from Intellectual disability to Intellectual disability, MONDO:0001071

8 Jul 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SAMD9L was added gene: SAMD9L was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SAMD9L were set to 33710394 Phenotypes for gene: SAMD9L were set to Intellectual disability Review for gene: SAMD9L was set to RED