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Infantile 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

1 review

Mervyn Thomas (University of Leicester)

Green List (high evidence)

This is the main gene associated with idiopathic infantile nystagmus
Created: 28 Nov 2016, 8:32 p.m.

Mode of inheritance
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; Nystagmus, infantile periodic alternating, X-linked

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Nov 2016, 8:32 p.m.

Panel version: 0.11

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
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • (not relevant if inheritance through paternal line)
  • Nystagmus 1, congenital, X-linked, 310700
  • Nystagmus, infantile periodic alternating, X-linked, 310700
  • Infantile Nystagmus
  • Nystagmus 1, Congenital, X-Linked
OMIM
300628
Clinvar variants
Variants in FRMD7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.

21 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FRMD7 were set to 17013395; 17397053; 17846367; 24688117; 21303855; 18431453

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

29 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FRMD7 was added to Infantile nystagmuspanel. Source: UKGTN

29 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

FRMD7 was added to Infantile nystagmuspanel. Source: Illumina TruGenome Clinical Sequencing Services Model 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)

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FRMD7 was added to Infantile nystagmuspanel. Source: Radboud University Medical Center, Nijmegen

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FRMD7 was created by ellenmcdonagh

29 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FRMD7 was added to Infantile nystagmuspanel. Sources: Eligibility statement prior genetic testing