Congenital anaemias
Gene: TINF2EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 22 panels
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Details
- Sources
-
- UKGTN
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Cytopenia - NOT Fanconi anaemia
- Cerebellar hypoplasia
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ataxia and cerebellar anomalies - childhood onset
- Intracerebral calcification disorders
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- COVID-19 research
- DDG2P
- Fetal anomalies
- Childhood interstitial lung disease
- Haematological malignancies for rare disease
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Childhood solid tumours
- Pulmonary Fibrosis, Familial
- Pigmentary skin disorders
- Hereditary ataxia, adult onset
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Congenital anaemiaspanel. Source: UKGTN
Added New Source
GEL ()TINF2 was added to Congenital anaemiaspanel. Sources: UKGTN