Ductal plate malformation

Gene: TINF2

Red List (low evidence)

TINF2 (TERF1 interacting nuclear factor 2)
EnsemblGeneIds (GRCh38): ENSG00000092330
EnsemblGeneIds (GRCh37): ENSG00000092330
OMIM: 604319, Gene2Phenotype
TINF2 is in 22 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

There is 1 patient with noncirrhotic portal hypertension (it is a nonsense mutation), which is out of 8 reported patients on OMIM with a liver phenotype. Therefore insufficient evidence so demoted from amber to red.
Created: 12 Nov 2018, 1:55 p.m.


History Filter Activity

30 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: There is 1 patient with noncir

12 Nov 2018, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to TINF2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

6 Nov 2018, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: TINF2 was added gene: TINF2 was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3 (613990)