PanelApp (staging)
  1. Genes and Genomic Entities
  2. FRMD7

FRMD7

FERM domain containing 7
OMIM: 300628, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green FRMD7 in Mendeliome


Version 1.2302

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nystagmus 1, congenital, X-linked 310700
  • Nystagmus, infantile periodic alternating, X-linked 310700

Green FRMD7 in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 1.22

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Nystagmus 1, congenital, X-linked, MIM# 310700
  • Nystagmus, infantile periodic alternating, X-linked, MIM# 310700