Familial pulmonary fibrosis
Gene: TINF2EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 22 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: Added phenotype suggested by expert reviewerCreated: 27 Apr 2017, 3:53 p.m.
Philip Molyneaux (Imperial College)
Associated with dyskeratosis congenita and FibrosisCreated: 26 Apr 2017, 9:42 a.m.
Alice Gardham (Genomics England)
Associated with pulmonary fibrosisCreated: 9 Feb 2017, 12:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskeratosis congenita, autosomal dominant 3 613990
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dyskeratosis congenita, autosomal dominant, 3, 613990
- Associated with dyskeratosis congenita and Fibrosis
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Hereditary ataxia, adult onset
- Cerebellar hypoplasia
- Adult solid tumours cancer susceptibility
- Intracerebral calcification disorders
- Haematological malignancies cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- Retinal disorders
- Childhood interstitial lung disease
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- COVID-19 research
- Dystonia, chorea or related movement disorder, childhood onset
- Pigmentary skin disorders
- Ataxia and cerebellar anomalies - childhood onset
- Haematological malignancies for rare disease
- Ductal plate malformation
- Fetal anomalies
- Childhood solid tumours
- Pulmonary Fibrosis, Familial
- DDG2P
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TINF2 were set to Dyskeratosis congenita, autosomal dominant, 3, 613990; Associated with dyskeratosis congenita and Fibrosis
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Alice Gardham (Genomics England)TINF2 was created by agardham
Added New Source
Alice Gardham (Genomics England)TINF2 was added to Familial pulmonary fibrosispanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Literature