IFT74

intraflagellar transport 74
OMIM: 608040, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green IFT74 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Jeune syndrome (MONDO:0018770), IFT74-related

Green IFT74 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome 20, MIM# 617119

Green IFT74 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Jeune syndrome (MONDO:0018770), IFT74-related

Green IFT74 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome 20, MIM# 617119
  • Joubert syndrome 40, MIM# 619582

Green IFT74 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 40, MIM# 619582

Green IFT74 in Mendeliome


Version 2.0

4 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ciliopathy MONDO:0005308, IFT74-related
  • Bardet-Biedl syndrome 20, MIM# 617119
  • Joubert syndrome 40, MIM# 619582
  • Spermatogenic failure 58, MIM# 619585

Green IFT74 in Skeletal Ciliopathies


Level 2: Skeletal disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Jeune syndrome (MONDO:0018770), IFT74-related

Green IFT74 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 20 617119

Green IFT74 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bardet-Biedl syndrome 20, MIM# 617119
  • Joubert syndrome 40, MIM# 619582
  • Spermatogenic failure 58, MIM# 619585

Green IFT74 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Jeune syndrome (MONDO:0018770), IFT74-related

Green IFT74 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bardet-Biedl syndrome 22 - MIM#617119
  • Joubert syndrome 40 - MIM#619582

Green IFT74 in Severe early-onset obesity


Level 2: Endocrine disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome 20, MIM# 617119