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  3. SEZ6
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Deafness_Isolated

Gene: SEZ6

Red List (low evidence)
SEZ6 (seizure related 6 homolog)
EnsemblGeneIds (GRCh38): ENSG00000063015
EnsemblGeneIds (GRCh37): ENSG00000063015
OMIM: 616666, Gene2Phenotype
SEZ6 is in 2 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Homozygous missense variant p.(Val698Ile) identified in 4 affected individuals from a single consanguineous Pakistani family by WES. 5 other genotyped unaffected individuals were heterozygous or homozygous wild-type. Variant is in gnomad (36 hets, 0 hom).

RNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only).
Sources: Literature
Created: 2 Feb 2022, 12:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Feb 2022, 12:08 a.m.

Panel version: 1.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related
OMIM
616666
Clinvar variants
Variants in SEZ6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: sez6 has been classified as Red List (Low Evidence).

2 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: sez6 has been classified as Red List (Low Evidence).

2 Feb 2022, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: SEZ6 was added gene: SEZ6 was added to Deafness_Isolated. Sources: Literature Mode of inheritance for gene: SEZ6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEZ6 were set to 34135477 Phenotypes for gene: SEZ6 were set to Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related Review for gene: SEZ6 was set to RED gene: SEZ6 was marked as current diagnostic