Ataxia - paediatric
Gene: TINF2

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)

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
Revesz syndrome, MIM# 268130

Publications

Created: 16 Apr 2020, 8:36 a.m.
Last Modified: 16 Apr 2020, 8:36 a.m.
Panel version: 0.75

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Autosomal dominant dyskeratosis congenita 3, 613990
Revesz syndrome, 268130

OMIM

604319

Clinvar variants

Variants in TINF2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Apr 2020, 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).

16 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TINF2 were set to

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TINF2 was added gene: TINF2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TINF2 were set to Autosomal dominant dyskeratosis congenita 3, 613990; Revesz syndrome, 268130

Ataxia - paediatric Gene: TINF2