Genomics England
GMS Panels
Panels
Genes and Entities

FRMD7

FERM domain containing 7
OMIM: 300628
PanelMode of inheritanceDetails
2 panels
Green
in Albinism or congenital nystagmus
R-numbers: R39
Signed-off version 3.0
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Nystagmus 1, Congenital, X-Linked, Infantile Nystagmus, Nystagmus, infantile periodic alternating, X-linked, 310700, Nystagmus 1, congenital, X-linked, 310700, (not relevant if inheritance through paternal line)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
NYSTAGMUS 1, CONGENITAL, X-LINKED 310700