TOGARAM1

TOG array regulator of axonemal microtubules 1
OMIM: 617618, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber TOGARAM1 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome 37, MIM# 619185
  • Cleft of the lip and palate
  • Microphthalmia
  • Cerebral dysgenesis
  • Hydrocephalus

Green TOGARAM1 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 37, MIM# 619185

Red TOGARAM1 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cleft of the lip and palate
  • Microphthalmia
  • Cerebral dysgenesis
  • Hydrocephalus

Green TOGARAM1 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.28

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 37, MIM# 619185

Green TOGARAM1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 37, MIM# 619185

Red TOGARAM1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.301

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cleft of the lip and palate
  • Microphthalmia
  • Cerebral dysgenesis
  • Hydrocephalus

Green TOGARAM1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 37, MIM# 619185

Red TOGARAM1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.260

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Cleft of the lip and palate
  • Microphthalmia
  • Cerebral dysgenesis
  • Hydrocephalus

Red TOGARAM1 in Fetal anomalies


Version 1.314

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Cerebral dysgenesis
  • Cleft of the lip and palate
  • Hydrocephalus
  • Microphthalmia