Combined Immunodeficiency
Gene: TINF2EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Immunodeficiency is not a major feature of these conditions, rather bone marrow failure +/- neurological features.Created: 11 Apr 2020, 11:04 p.m. | Last Modified: 11 Apr 2020, 11:04 p.m.
Panel Version: 0.141
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
- Revesz syndrome, MIM# 268130
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- None
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Combined Immunodeficiency
- Fetal anomalies
- Additional findings_Paediatric
- Pulmonary Fibrosis_Interstitial Lung Disease
- Mendeliome
- Brain Calcification
- IBMDx study
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Syndromic Retinopathy
- Interstitial Lung Disease
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tinf2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TINF2 were changed from to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tinf2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TINF2 was added gene: TINF2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TINF2 was set to Unknown