REPS2

RALBP1 associated Eps domain containing 2
OMIM: 300317, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber REPS2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
  • Cerebral palsy HP:0100021

Amber REPS2 in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
  • Cerebral palsy HP:0100021

Amber REPS2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
  • Cerebral palsy HP:0100021