Albinism or congenital nystagmus

Gene: FRMD7

Green List (high evidence)

FRMD7 (FERM domain containing 7)
EnsemblGeneIds (GRCh38): ENSG00000165694
EnsemblGeneIds (GRCh37): ENSG00000165694
OMIM: 300628, Gene2Phenotype
FRMD7 is in 6 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
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)
OMIM
300628
Clinvar variants
Variants in FRMD7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: FRMD7 was added gene: FRMD7 was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FRMD7 were set to 24688117; 17013395; 21303855; 17397053; 18431453; 17846367 Phenotypes for gene: FRMD7 were set to 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)