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  2. Hereditary Spastic Paraplegia - adult onset
  3. FBXO7
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Hereditary Spastic Paraplegia - adult onset

Gene: FBXO7

Green List (high evidence)
FBXO7 (F-box protein 7)
EnsemblGeneIds (GRCh38): ENSG00000100225
EnsemblGeneIds (GRCh37): ENSG00000100225
OMIM: 605648, Gene2Phenotype
FBXO7 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Lower limb spasticity reported in at least three families.
Created: 19 Apr 2020, 10:01 a.m. | Last Modified: 19 Apr 2020, 10:01 a.m.
Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson disease 15, autosomal recessive MIM#260300

Publications

Created: 19 Apr 2020, 10:01 a.m.
Last Modified: 19 Apr 2020, 10:01 a.m.
Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Parkinson disease 15, autosomal recessive MIM#260300
OMIM
605648
Clinvar variants
Variants in FBXO7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FBXO7 were changed from Parkinson disease 15 to Parkinson disease 15, autosomal recessive MIM#260300

16 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FBXO7 were set to

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fbxo7 has been classified as Green List (High Evidence).

19 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fbxo7 has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FBXO7 was added gene: FBXO7 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBXO7 were set to Parkinson disease 15