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IBMDx study

Gene: TINF2

Green List (high evidence)
TINF2 (TERF1 interacting nuclear factor 2)
EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

RS is a severe variant of DKC with early bone marrow failure and retinopathy.

Well established gene-disease associations.
Created: 19 Jun 2021, 2:33 a.m. | Last Modified: 19 Jun 2021, 2:33 a.m.
Panel Version: 0.316

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130

Publications

Created: 19 Jun 2021, 2:33 a.m.
Last Modified: 19 Jun 2021, 2:33 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.316

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Revesz syndrome, MIM# 268130
  • Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
OMIM
604319
Clinvar variants
Variants in TINF2
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TINF2 was added gene: TINF2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: TINF2 was set to Unknown Phenotypes for gene: TINF2 were set to Revesz syndrome, MIM# 268130; Dyskeratosis congenita, autosomal dominant 3, MIM# 613990