This Panel is marked as Internal
Anaemias and red cell disorders
Gene: TINF2
TINF2 (TERF1 interacting nuclear factor 2)
EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 22 panels
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes
- Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
- Revesz Syndrome
- Dyskeratosis congenita, autosomal dominant 3, 613990
- Revesz syndrome, 268130
- Revesz Syndrome
- Dyskeratosis congenita
- Dyskeratosis Congenita, Dominant
- Dyskeratosis Congenita, Autosomal Dominant, 3
- DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Intellectual disability
- Cerebellar hypoplasia
- Adult solid tumours cancer susceptibility
- Intracerebral calcification disorders
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- COVID-19 research
- Fetal anomalies
- Ataxia and cerebellar anomalies - childhood onset
- Retinal disorders
- Childhood interstitial lung disease
- Haematological malignancies for rare disease
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood solid tumours
- Pulmonary Fibrosis, Familial
- DDG2P
- Hereditary ataxia, adult onset
History Filter Activity
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TINF2 was created by ellenmcdonagh
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list