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  2. Deafness_Isolated
  3. REST
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Deafness_Isolated

Gene: REST

Amber List (moderate evidence)
REST (RE1 silencing transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000084093
EnsemblGeneIds (GRCh37): ENSG00000084093
OMIM: 600571, Gene2Phenotype
REST is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

2 families reported.
Sources: Expert list
Created: 12 May 2022, 8 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Deafness, autosomal dominant 27, MIM# 612431

Publications

Created: 12 May 2022, 8 a.m.

Panel version: 1.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Deafness, autosomal dominant 27, MIM# 612431
OMIM
600571
Clinvar variants
Variants in REST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 May 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: REST was added gene: REST was added to Deafness_Isolated. Sources: Expert list Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: REST were set to 29961578; 34828371 Phenotypes for gene: REST were set to Deafness, autosomal dominant 27, MIM# 612431 Review for gene: REST was set to AMBER