1. Panels
  2. Clefting disorders
  3. SELENOI
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Clefting disorders

Gene: SELENOI

Red List (low 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)

Red List (low evidence)

Four siblings, single family; biochemical evidence as functional data. Cleft palate + bifid uvula in one individual; bifid uvula in another.
Created: 10 Dec 2019, 6:10 a.m. | Last Modified: 10 Dec 2019, 6:24 a.m.
Panel Version: 0.4

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, 6:10 a.m.
Last Modified: 10 Dec 2019, 6:24 a.m.
Panel version: Imported from Clefts panel version 0.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate
  • 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

7 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: selenoi has been classified as Red List (Low Evidence).

7 Feb 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Feb 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SELENOI were set to

7 Feb 2021, Gel status: 1

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

16 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SELENOI was added gene: SELENOI was added to Clefting_GEL. Sources: Expert list,Expert Review Red Mode of inheritance for gene: SELENOI was set to Unknown Phenotypes for gene: SELENOI were set to Cleft palate