RABGAP1

RAB GTPase activating protein 1
OMIM: 615882, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green RABGAP1 in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092

Green RABGAP1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.375

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092

Green RABGAP1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092

Green RABGAP1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.497

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092