Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Cytopenias and congenital anaemias

Gene: TINF2

Amber List (moderate evidence)

TINF2 (TERF1 interacting nuclear factor 2)
EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 21 panels

2 reviews

Arianna Tucci (Genomics England Curator)

I don't know

Only two patients described with the mutation in TINF2. They both developed aplasitic anaemia.
Created: 9 Mar 2017, 4:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Phenotypes
Dyskeratosis congenita

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

12 Oct 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TINF2 were changed from Inherited Bone Marrow Failure Syndromes; Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Revesz Syndrome; Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130; Revesz Syndrome; Dyskeratosis congenita; Dyskeratosis Congenita, Dominant; Dyskeratosis Congenita, Autosomal Dominant, 3; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 to Revesz syndrome 268130; Dyskeratosis congenita, autosomal dominant 3 613990

11 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

TINF2 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Amber

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TINF2 was created by LouiseD

17 Feb 2017, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

TINF2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN