Ductal plate malformation
Gene: TINF2
TINF2 (TERF1 interacting nuclear factor 2)
EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 21 panels
1 review
Ivone Leong (Genomics England Curator)
There is 1 patient with noncirrhotic portal hypertension (it is a nonsense mutation), which is out of 8 reported patients on OMIM with a liver phenotype. Therefore insufficient evidence so demoted from amber to red.Created: 12 Nov 2018, 1:55 p.m.
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Dyskeratosis congenita, autosomal dominant 3 (613990)
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- None
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- Cerebellar hypoplasia
- COVID-19 research
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Retinal disorders
- Childhood solid tumours
- Haematological malignancies for rare disease
- Fetal anomalies
- Hereditary ataxia with onset in adulthood
- Ductal plate malformation
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
History Filter Activity
30 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: There is 1 patient with noncir
12 Nov 2018, Gel status: 1
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to TINF2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
6 Nov 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TINF2 was added gene: TINF2 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 (613990)