Combined Immunodeficiency
Gene: TGFBR1EnsemblGeneIds (GRCh38): ENSG00000106799
EnsemblGeneIds (GRCh37): ENSG00000106799
OMIM: 190181, Gene2Phenotype
TGFBR1 is in 19 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: IUIS CID geneCreated: 18 Mar 2021, 3:37 a.m. | Last Modified: 18 Mar 2021, 3:37 a.m.
Panel Version: 0.183
There is a high prevalence of multiple immunologic phenotypes, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal diseases in LDS cases with TGFBR1 pathogenic missense variants.
Sources: Expert listCreated: 18 Mar 2021, 3:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Loeys-Dietz syndrome 1 MIM#609192
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Loeys-Dietz syndrome 1 MIM#609192
- OMIM
- 190181
- Clinvar variants
- Variants in TGFBR1
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Combined Immunodeficiency
- Additional findings_Adult
- Clefting disorders
- Incidentalome_PREGEN_DRAFT
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Pneumothorax
- Craniosynostosis
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Arthrogryposis
- Aortopathy_Connective Tissue Disorders
- Spontaneous coronary artery dissection
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tgfbr1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tgfbr1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: TGFBR1 was added gene: TGFBR1 was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFBR1 were set to 24333532; 23884466; 32048120 Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1 MIM#609192 Mode of pathogenicity for gene: TGFBR1 was set to Other Review for gene: TGFBR1 was set to GREEN