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Syndromic Retinopathy

Gene: TINF2

Green List (high evidence)
TINF2 (TERF1 interacting nuclear factor 2)
EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bilateral exudative retinopathy is a defining feature of Revesz syndrome, in addition to other manifestations such as bone marrow failure, intracranial calcification and cerebellar hypoplasia. Multiple (>3) unrelated cases reported in literature with retinal findings.
Sources: Expert list
Created: 12 Oct 2020, 8:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Revesz syndrome, 268130

Publications

Created: 12 Oct 2020, 8:37 p.m.

Panel version: 0.125

History Filter Activity

12 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TINF2 was added gene: TINF2 was added to Syndromic Retinopathy. 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 18252230; 21477109; 28095086; 28866069; 29749240; 30478948 Phenotypes for gene: TINF2 were set to Revesz syndrome, 268130 Review for gene: TINF2 was set to GREEN