TRAF3IP1:Ensemblv115

TRAF3 interacting protein 1
OMIM: 607380, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TRAF3IP1 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Senior-Loken syndrome 9, MIM# 616629
  • MONDO:0014712

Green TRAF3IP1 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Senior-Loken syndrome 9, MIM# 616629
  • MONDO:0014712

Green TRAF3IP1 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • KidGen_CilioNephronop v38.1.0
  • Expert Review Green
Phenotypes
  • Senior-Loken syndrome 9, MIM# 616629
  • MONDO:0014712

Green TRAF3IP1 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Senior-Loken syndrome 9, MIM# 616629
  • MONDO:0014712

Green TRAF3IP1 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • KidGen_CilioNephronop v38.1.0
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Senior-Loken syndrome 9, MIM# 616629
  • MONDO:0014712