Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria

Gene: TINF2

Green List (high evidence)

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

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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
OMIM
604319
Clinvar variants
Variants in TINF2
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Nov 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TINF2 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list

29 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TINF2 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Illumina TruGenome Clinical Sequencing Services

29 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TINF2 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Radboud University Medical Center, Nijmegen

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TINF2 was created by ellenmcdonagh

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TINF2 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: UKGTN