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  2. Hereditary Spastic Paraplegia - paediatric
  3. SELENOI
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Hereditary Spastic Paraplegia - paediatric

Gene: SELENOI

Amber List (moderate evidence)
SELENOI (selenoprotein I)
EnsemblGeneIds (GRCh38): ENSG00000138018
EnsemblGeneIds (GRCh37): ENSG00000138018
OMIM: 607915, Gene2Phenotype
SELENOI is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported.
Created: 18 Apr 2020, 8:16 a.m. | Last Modified: 18 Apr 2020, 8:16 a.m.
Panel Version: 0.46

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 81, autosomal recessive 618768; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals

Publications

Created: 18 Apr 2020, 8:16 a.m.
Last Modified: 18 Apr 2020, 8:16 a.m.
Panel version: 0.46

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 81, autosomal recessive 618768
  • developmental delay
  • spasticity
  • periventricular white mater abnormalities
  • peripheral neuropathy
  • seizures
  • bifid uvula in some affected individuals
OMIM
607915
Clinvar variants
Variants in SELENOI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: selenoi has been classified as Amber List (Moderate Evidence).

18 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SELENOI were changed from severe complicated hereditary spastic paraplegia, sensorineural-deafness, blindness, and seizures to Spastic paraplegia 81, autosomal recessive 618768; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals

18 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: selenoi has been classified as Amber List (Moderate Evidence).

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SELENOI was added gene: SELENOI was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SELENOI were set to 28052917; 29500230 Phenotypes for gene: SELENOI were set to severe complicated hereditary spastic paraplegia, sensorineural-deafness, blindness, and seizures