FRMPD4:Ensemblv90

FERM and PDZ domain containing 4
OMIM: 300838, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green FRMPD4 in Mendeliome


Version 1.3802

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mental retardation, X-linked 104, MIM#300983

Green FRMPD4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked 104, MIM#300983

Green FRMPD4 in Fetal anomalies


Version 1.482

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Intellectual Disability, X-linked 104, MIM#300983

Green FRMPD4 in Fetal anomalies


Version 2.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Intellectual Disability, X-linked 104, MIM#300983