Intracerebral calcification disorders

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence to rate this gene Green on this panel - intracranial calcification is a feature of Revesz syndrome, and has been reported in literature in at least 4 unrelated cases with different variants in the TINF2 gene.
Created: 12 Oct 2020, 12:58 p.m. | Last Modified: 12 Oct 2020, 1:36 p.m.
Panel Version: 1.25
Comment on publications: Added publications to support association with this phenotype.
Created: 12 Oct 2020, 12:53 p.m. | Last Modified: 12 Oct 2020, 12:53 p.m.
Panel Version: 1.22

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Brain calcifications are part of the phenotype.
Sources: Expert list
Created: 24 Jul 2020, 10:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Revesz syndrome, MIM# 268130

Publications

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 Revesz syndrome, MIM# 268130 to Revesz syndrome, 268130

12 Oct 2020, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: TINF2.

12 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

12 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tinf2 has been classified as Amber List (Moderate Evidence).

12 Oct 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: TINF2.

12 Oct 2020, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TINF2 were set to 21477109; 18252230

24 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TINF2 was added gene: TINF2 was added to Intracerebral calcification disorders. Sources: Expert list Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TINF2 were set to 21477109; 18252230 Phenotypes for gene: TINF2 were set to Revesz syndrome, MIM# 268130 Review for gene: TINF2 was set to GREEN gene: TINF2 was marked as current diagnostic