Cerebellar and Pontocerebellar Hypoplasia
Gene: TINF2EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 14 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Cerebellar hypoplasia is reported but not a consistent feature. Commonly associated with specific variants reported to cause dyskeratosis congenita and features of Hoyeraal-Hreidarsson and Revesz syndrome. The variants in patients with HH and/or RS are clustered at aa 280, 282, and 283 (Walne 2008)
PMID: 18252230; Savage 2008: Cerebellar hypoplasia reported one proband diagnosed with dyskeratosis congenita and Revesz syndrome. Same missense, R282H, reported in 2 other individuals who did not have cerebellar hypoplasia
PMID: 18979121; Tsangaris 2008: 1 proband with the same R282H reported. Cerebellar hypoplasia noted.
PMID: 18669893; Walne 2008: Cerebellar hypoplasia reported in 1 of 14 patients with R282H
PMID: 21477109; Sasa 2013: Cerebellar hypoplasia reported in 1 patient, p.(K280RfsX36).
PanelApp UK: "Variable cerebellar hypoplasia seen in this condition" Green
Sources: Expert ReviewCreated: 20 Apr 2020, 1:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dyskeratosis congenita, autosomal dominant 3 (MIM#613990); Revesz syndrome (MIM#268130)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dyskeratosis congenita, autosomal dominant 3 (MIM#613990)
- 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
Crystle Lee (Victorian Clinical Genetics Services)gene: TINF2 was added gene: TINF2 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TINF2 were set to 18252230; 18979121; 18669893; 21477109 Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 (MIM#613990); Revesz syndrome (MIM#268130) Review for gene: TINF2 was set to GREEN