This Panel is marked as Internal
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- 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
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Pigmentary skin disorders
- 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
- Retinal disorders
- Childhood interstitial lung disease
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- COVID-19 research
- Dystonia, chorea or related movement disorder, childhood onset
- Intellectual disability
- 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
19 Nov 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list
29 Oct 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Illumina TruGenome Clinical Sequencing Services
29 Oct 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Radboud University Medical Center, Nijmegen
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TINF2 was created by ellenmcdonagh
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TINF2 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN