Cytopenia - NOT Fanconi anaemia

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

5 reviews

Steve Keeney (Central Manchester Foundation Trust)

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.
Created: 18 Feb 2019, 2:55 p.m.

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

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; Dyskeratosis Congenita, Dominant; Dyskeratosis Congenita, Autosomal Dominant, 3; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3

Mandy nesbitt (Healthcare Professional)

Green List (high evidence)

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.
Created: 14 Feb 2019, 5:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
613990 Dyskeratosis congenita, autosomal dominant 3

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

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 1:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

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

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Created: 22 Jul 2019, 12:42 p.m. | Last Modified: 22 Jul 2019, 12:42 p.m.
Panel Version: 0.70
Discrepant reviews forTINF2. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree rating.
Created: 22 Jul 2019, 12:41 p.m. | Last Modified: 22 Jul 2019, 12:41 p.m.
Panel Version: 0.69
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TINF2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; 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;Dyskeratosis Congenita, Dominant;Dyskeratosis Congenita, Autosomal Dominant, 3;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; PMID(s): none submitted
Created: 18 Feb 2019, 2:57 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TINF2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613990 Dyskeratosis congenita, autosomal dominant 3; PMID(s): none submitted
Created: 14 Feb 2019, 5:40 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TINF2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613990 Dyskeratosis congenita, autosomal dominant 3; 268130 Revesz syndrome; PMID(s): 21536674; 18669893
Created: 8 Feb 2019, 1:43 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TINF2; Suggested intial gene rating: not submitted; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; 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;Dyskeratosis Congenita, Dominant;Dyskeratosis Congenita, Autosomal Dominant, 3;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; PMID(s): none submitted
Created: 6 Feb 2019, 3:13 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 6 Feb 2019, 3:12 p.m.

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

History Filter Activity

12 Oct 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

22 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: tinf2 has been classified as Green List (High Evidence).

18 Feb 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

18 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to TINF2.

14 Feb 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 613990 Dyskeratosis congenita, autosomal dominant 3 for gene: TINF2

14 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to TINF2.

8 Feb 2019, Gel status: 2

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 613990 Dyskeratosis congenita, autosomal dominant 3; 268130 Revesz syndrome for gene: TINF2 Publications for gene TINF2 were changed from to 18669893; 21536674

8 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to TINF2.

6 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TINF2.

6 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to TINF2. Mode of inheritance for gene TINF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Revesz Syndrome; Dyskeratosis Congenita, Autosomal Dominant, 3; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3; Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Dominant for gene: TINF2 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

6 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TINF2 was added gene: TINF2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TINF2 was set to