Brain Calcification
Gene: TINF2EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 14 panels
2 reviews
Yetong Chen (University of Melbourne)
Additional cases are reported.
PMID 33734615 reports a patient (patient 1) with a TINF2 variant (c.845G > A, p. Arg282His) who had calcification of the cerebral parenchyma.
PMID 32966588 reports a patient with a TINF2 variant (c.845G>A, p.Arg282His) who had diffuse calcification within the thalami, posterior limb of the internal capsule, deep white matter, cerebellar hypoplasia and a thin corpus callosum.
PMID 28095086 reports 2 twins with the same TINF2 variant (c.850A > C, p.T284P) who had widespread brain calcifications. CT scan is only available for twin A.Created: 3 May 2023, 5:34 a.m. | Last Modified: 3 May 2023, 5:34 a.m.
Panel Version: 1.76
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Brain calcifications are part of the phenotype.
Sources: Expert listCreated: 24 Jul 2020, 10:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Revesz syndrome, MIM# 268130
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Revesz syndrome, MIM# 268130
- OMIM
- 604319
- Clinvar variants
- Variants in TINF2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Combined Immunodeficiency
- Fetal anomalies
- Additional findings_Paediatric
- Pulmonary Fibrosis_Interstitial Lung Disease
- Mendeliome
- Brain Calcification
- IBMDx study
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Syndromic Retinopathy
- Interstitial Lung Disease
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tinf2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tinf2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TINF2 was added gene: TINF2 was added to Brain Calcification. 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