Familial tumoral calcinosis
Gene: SAMD9EnsemblGeneIds (GRCh38): ENSG00000205413
EnsemblGeneIds (GRCh37): ENSG00000205413
OMIM: 610456, Gene2Phenotype
SAMD9 is in 20 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that SAM9D should remain amber.Created: 5 Feb 2019, 3:09 p.m.
Comment on list classification: Promoted from red to amber. PMID: 16960814 identified the same missense variant in 5 Jewish Yemenite families. PMID: 18094730 identified a nonsense variant in an individual of Jewish Yemenite origin.Created: 17 Jan 2019, 10:51 a.m.
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tumoral calcinosis, familial, normophosphatemic, 610455
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Tumoral calcinosis, familial, normophosphatemic, OMIM:610455
- OMIM
- 610456
- Clinvar variants
- Variants in SAMD9
- Penetrance
- None
- Publications
- Panels with this gene
-
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Radial dysplasia
- Intellectual disability
- 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)
- Familial tumoral calcinosis
- IUGR and IGF abnormalities
- DDG2P
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SAMD9 were changed from Tumoral calcinosis, familial, normophosphatemic, 610455 to Tumoral calcinosis, familial, normophosphatemic, OMIM:610455
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: samd9 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SAMD9 were changed from to Tumoral calcinosis, familial, normophosphatemic, 610455
Created, Added New Source, Set mode of inheritance, Set publications
Ivone Leong (Genomics England Curator)gene: SAMD9 was added gene: SAMD9 was added to Familial tumoral calcinosis. Sources: NHS GMS Mode of inheritance for gene: SAMD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMD9 were set to 18094730; 16960814