Intracerebral calcification disorders
Gene: TINF2EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 21 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: There is sufficient evidence to rate this gene Green on this panel - intracranial calcification is a feature of Revesz syndrome, and has been reported in literature in at least 4 unrelated cases with different variants in the TINF2 gene.Created: 12 Oct 2020, 12:58 p.m. | Last Modified: 12 Oct 2020, 1:36 p.m.
Panel Version: 1.25
Comment on publications: Added publications to support association with this phenotype.Created: 12 Oct 2020, 12:53 p.m. | Last Modified: 12 Oct 2020, 12:53 p.m.
Panel Version: 1.22
Zornitza Stark (Australian Genomics)
Brain calcifications are part of the phenotype.
Sources: Expert listCreated: 24 Jul 2020, 10:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Revesz syndrome, MIM# 268130
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Revesz syndrome, 268130
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Familial pulmonary fibrosis
- Cerebellar hypoplasia
- Haematological malignancies cancer susceptibility
- Intracerebral calcification disorders
- Intellectual disability
- Pigmentary skin disorders
- COVID-19 research
- Haematological malignancies for rare disease
- Retinal disorders
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TINF2 were changed from Revesz syndrome, MIM# 268130 to Revesz syndrome, 268130
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: TINF2.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: tinf2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: tinf2 has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: TINF2.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TINF2 were set to 21477109; 18252230
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: TINF2 was added gene: TINF2 was added to Intracerebral calcification disorders. Sources: Expert list Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TINF2 were set to 21477109; 18252230 Phenotypes for gene: TINF2 were set to Revesz syndrome, MIM# 268130 Review for gene: TINF2 was set to GREEN gene: TINF2 was marked as current diagnostic