RABGAP1:Ensemblv90

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RABGAP1 in Mendeliome


Version 1.3802

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 1.376

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 1.508

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 2.0

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