Cytopenias and congenital anaemiasGene: TINF2
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
Revesz syndrome 268130; Dyskeratosis congenita, autosomal dominant 3 613990
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
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
TINF2 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Amber
TINF2 was created by LouiseD
TINF2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN