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  2. Pulmonary Fibrosis_Interstitial Lung Disease
  3. TINF2
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Pulmonary Fibrosis_Interstitial Lung Disease

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, 2:35 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

Created: 16 Apr 2020, 8:36 a.m.
Last Modified: 16 Apr 2020, 8:36 a.m.
Panel version: Imported from Mendeliome panel version 0.8079

History Filter Activity

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