Early onset pancytopenia and red cell disorders
Gene: TINF2EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 22 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Dyskeratosis congenita
- Dyskeratosis congenita, autosomal dominant 3, 613990
- Revesz syndrome, 268130
- Dyskeratosis Congenita, Dominant
- Dyskeratosis Congenita, Autosomal Dominant, 3
- Revesz Syndrome
- DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours
- Pulmonary Fibrosis, Familial
- DDG2P
- Cytopenia - NOT Fanconi anaemia
- Pigmentary skin disorders
- Cerebellar hypoplasia
- Ataxia and cerebellar anomalies - childhood onset
- Adult solid tumours cancer susceptibility
- Intracerebral calcification disorders
- Haematological malignancies cancer susceptibility
- Retinal disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Childhood interstitial lung disease
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- Intellectual disability
- COVID-19 research
- Hereditary ataxia, adult onset
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Ductal plate malformation
- Fetal anomalies
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list