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  3. SELENOI
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Microcephaly

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

One family only; four sibs; supportive biochemical data; microcephaly is a consistent feature.
Created: 10 Dec 2019, 6:27 a.m. | Last Modified: 10 Dec 2019, 6:27 a.m.
Panel Version: 0.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals

Publications

Created: 10 Dec 2019, 6:27 a.m.
Last Modified: 10 Dec 2019, 6:27 a.m.
Panel version: 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • developmental delay
  • spasticity
  • periventricular white mater abnormalities
  • peripheral neuropathy
  • seizures
  • microcephaly
  • bifid uvula in some affected individuals
OMIM
607915
Clinvar variants
Variants in SELENOI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2019, 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).

10 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SELENOI were set to

10 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SELENOI were changed from to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; microcephaly; bifid uvula in some affected individuals

10 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SELENOI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

10 Dec 2019, 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SELENOI was added gene: SELENOI was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SELENOI was set to Unknown