This Panel is marked as Retired
Growth failure in early childhood
Gene: SAMD9
SAMD9 (sterile alpha motif domain containing 9)
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 20 panels
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- MIRAGE syndrome, 617053
- Tags
- OMIM
- 610456
- Clinvar variants
- Variants in SAMD9
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Radial dysplasia
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Multiple monogenic benign skin tumours
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal neuromuscular disorders
- Differences in sex development
- Pigmentary skin disorders
- Monogenic short stature
- Familial Hirschsprung Disease
- Congenital adrenal hypoplasia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Intellectual disability
- Familial tumoral calcinosis
- IUGR and IGF abnormalities
- DDG2P
- Gastrointestinal epithelial barrier disorders
History Filter Activity
30 May 2019, Gel status: 1
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Red was added to SAMD9. Rating Changed from Green List (high evidence) to Red List (low evidence)
14 Dec 2018, Gel status: 4
Added Tag
Ellen McDonagh (Genomics England Curator)Tag missense tag was added to gene: SAMD9.
14 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: SAMD9 was added gene: SAMD9 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9 were set to 27182967 Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, 617053 Mode of pathogenicity for gene: SAMD9 was set to Other - please provide details in the comments