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Severe Paediatric Disorders

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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FRMD7; Recommended initial gene rating: Green List (high evidence); Phenotypes: Nystagmus 1, congenital, X-linked, 310700 (3) | Nystagmus, infantile periodic alternating, X-linked, 310700 (3); Mode of inheritance: X-linked | X-linked
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

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
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Nystagmus 1, congenital, X-linked, 310700
  • Nystagmus, infantile periodic alternating, X-linked, 310700
OMIM
300628
Clinvar variants
Variants in FRMD7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene FRMD7 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Nystagmus 1, congenital, X-linked, 310700; Nystagmus, infantile periodic alternating, X-linked, 310700 for gene: FRMD7

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Nystagmus 1, congenital, X-linked, 310700; Nystagmus, infantile periodic alternating, X-linked, 310700 for gene: FRMD7

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Nystagmus 1, congenital, X-linked, 310700; Nystagmus, infantile periodic alternating, X-linked, 310700 for gene: FRMD7

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Nystagmus 1, congenital, X-linked, 310700; Nystagmus, infantile periodic alternating, X-linked, 310700 for gene: FRMD7

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to FRMD7.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to FRMD7. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: FRMD7 was added gene: FRMD7 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FRMD7 was set to