TINF2

TERF1 interacting nuclear factor 2
OMIM: 604319, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green TINF2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
  • Revesz syndrome, MIM# 268130

Green TINF2 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Revesz syndrome, MIM# 268130

Green TINF2 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 3 (MIM#613990)
  • Revesz syndrome (MIM#268130)

Amber TINF2 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 3, MIM# 613990

Green TINF2 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
  • Revesz syndrome, MIM# 268130

Amber TINF2 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Amber
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
  • Revesz syndrome, MIM# 268130

Green TINF2 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Revesz syndrome, 268130

Green TINF2 in IBMDx study


Version 1.0

1 review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
Phenotypes
  • Revesz syndrome, MIM# 268130
  • Dyskeratosis congenita, autosomal dominant 3, MIM# 613990

Amber TINF2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • BabySeq Category B gene
Phenotypes
  • Dyskeratosis congenita