Pigmentary skin disorders
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
2 reviews
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: TINF2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3
- Revesz syndrome
- Dyskeratosis congenita
- DKCA3, REVESZ SYNDROME
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Cytopenia - NOT Fanconi anaemia
- Cerebellar hypoplasia
- Retinal disorders
- Intracerebral calcification disorders
- Pulmonary fibrosis familial
- Pigmentary skin disorders
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Childhood solid tumours
- Haematological malignancies for rare disease
- Childhood onset dystonia, chorea or related movement disorder
- Ductal plate malformation
- DDG2P
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
History Filter Activity
12 Dec 2019, Gel status: 3
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3, REVESZ SYNDROME for gene: TINF2 Publications for gene TINF2 were changed from to 21477109; 18252230
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to TINF2.
31 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: TINF2 was added gene: TINF2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TINF2 were set to Revesz syndrome; Dyskeratosis congenita