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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 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, >20 families reported.
Created: 25 Oct 2021, 12:10 a.m. | Last Modified: 25 Oct 2021, 12:10 a.m.
Panel Version: 0.29

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Nystagmus 1, congenital, X-linked, MIM# 310700; Nystagmus, infantile periodic alternating, X-linked, MIM# 310700

Publications

Created: 25 Oct 2021, 12:10 a.m.
Last Modified: 25 Oct 2021, 12:10 a.m.
Panel version: 0.29

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Carrier females may or may not be symptomatic (OMIM, PMID: 19072571).

PMID: 23406872:
- Overexpression of missense resulted in reduced extension, protein instability, reduced CASK binding and reduced populations of neurites
- Authors note DN, but functional studies of coexpression of missense mutant with wildtype not found. Concluded that retention of nuclear localization signal but not C-terminal domain = DN,
Created: 4 Aug 2020, 1:48 a.m. | Last Modified: 4 Aug 2020, 1:48 a.m.
Panel Version: 0.3675

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Nystagmus 1, congenital, X-linked 310700; Nystagmus, infantile periodic alternating, X-linked 310700

Publications

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

Created: 4 Aug 2020, 1:48 a.m.
Last Modified: 4 Aug 2020, 1:48 a.m.
Panel version: Imported from Mendeliome panel version 0.3675

Details

Mode of Inheritance
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
OMIM
300628
Clinvar variants
Variants in FRMD7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: frmd7 has been classified as Green List (High Evidence).

25 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FRMD7 were changed from Nystagmus 1, Congenital, X-Linked; Nystagmus 1, congenital, X-linked, 310700; Infantile Nystagmus; (not relevant if inheritance through paternal line); Nystagmus, infantile periodic alternating, X-linked, 310700 to Nystagmus 1, congenital, X-linked, MIM# 310700; Nystagmus, infantile periodic alternating, X-linked, MIM# 310700

25 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FRMD7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females

6 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Nystagmus 1, Congenital, X-Linked; Nystagmus 1, congenital, X-linked, 310700; Infantile Nystagmus; (not relevant if inheritance through paternal line); Nystagmus, infantile periodic alternating, X-linked, 310700 for gene: FRMD7

6 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FRMD7 was added gene: FRMD7 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp 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 17013395; 17397053; 18431453; 17846367; 21303855; 24688117 Phenotypes for gene: FRMD7 were set to Nystagmus 1, Congenital, X-Linked; Nystagmus 1, congenital, X-linked, 310700; Infantile Nystagmus; (not relevant if inheritance through paternal line); Nystagmus, infantile periodic alternating, X-linked, 310700