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Mendeliome

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

Richter Jensen et al. 2023
Study of the Danish population. p.Arg265Ter truncating variant causative of multiple primary melanoma was identified in four unrelated participants. This truncating variant is associated with long telomeres.
Created: 1 Aug 2023, 11:17 p.m. | Last Modified: 1 Aug 2023, 11:17 p.m.
Panel Version: 1.1049

Mode of inheritance
Unknown

Phenotypes
Multiple Primary Melanomas (MPM)

Publications

  • https://doi.org/10.1016/j.xhgg.2023.100225

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, 2:35 a.m. | Last Modified: 19 Jun 2021, 2:35 a.m.
Panel Version: 0.8079
Ataxia in combination with dyskeratosis congenita/pancytopaenia reported in at least three families.
Created: 16 Apr 2020, 8:36 a.m. | Last Modified: 16 Apr 2020, 8:36 a.m.
Panel Version: 0.75

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

History Filter Activity

19 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tinf2 has been classified as Green List (High Evidence).

19 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TINF2 were changed from to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130

19 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TINF2 were set to

19 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TINF2 was added gene: TINF2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TINF2 was set to Unknown