Deafness_Isolated
Gene: SERPINB6
SERPINB6 (serpin family B member 6)
EnsemblGeneIds (GRCh38): ENSG00000124570
EnsemblGeneIds (GRCh37): ENSG00000124570
OMIM: 173321, Gene2Phenotype
SERPINB6 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000124570
EnsemblGeneIds (GRCh37): ENSG00000124570
OMIM: 173321, Gene2Phenotype
SERPINB6 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple affected families and animal model.Created: 28 Jan 2020, 11:08 p.m. | Last Modified: 28 Jan 2020, 11:08 p.m.
Panel Version: 0.254
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 91, MIM# 613453
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Deafness Flagship
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Deafness, autosomal recessive 91, MIM# 613453
- OMIM
- 173321
- Clinvar variants
- Variants in SERPINB6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: serpinb6 has been classified as Green List (High Evidence).
21 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SERPINB6 was added gene: SERPINB6 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SERPINB6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINB6 were set to 25719458; 23669344; 20451170 Phenotypes for gene: SERPINB6 were set to Deafness, autosomal recessive 91, MIM# 613453