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  3. SPTBN4
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Auditory Neuropathy

Gene: SPTBN4

Green List (high evidence)
SPTBN4 (spectrin beta, non-erythrocytic 4)
EnsemblGeneIds (GRCh38): ENSG00000160460
EnsemblGeneIds (GRCh37): ENSG00000160460
OMIM: 606214, Gene2Phenotype
SPTBN4 is in 6 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

The deafness present in the syndrome has been confirmed as being due to auditory neuropathy in multiple cases.
Created: 13 Nov 2020, 6:03 a.m. | Last Modified: 13 Nov 2020, 6:03 a.m.
Panel Version: 0.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519; Syndromic auditory neuropathy spectrum disorder

Publications

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

Created: 13 Nov 2020, 6:03 a.m.
Last Modified: 13 Nov 2020, 6:03 a.m.
Panel version: 0.17

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Syndromic deafness reported in multiple families.
Created: 28 Jan 2020, 11:22 p.m. | Last Modified: 28 Jan 2020, 11:22 p.m.
Panel Version: 0.259

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519

Publications

Created: 28 Jan 2020, 11:22 p.m.
Last Modified: 28 Jan 2020, 11:22 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.259

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519
  • Syndromic auditory neuropathy spectrum disorder
OMIM
606214
Clinvar variants
Variants in SPTBN4
Penetrance
None
Panels with this gene

History Filter Activity

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sptbn4 has been classified as Green List (High Evidence).

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sptbn4 has been classified as Green List (High Evidence).

13 Nov 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SPTBN4 was added gene: SPTBN4 was added to Auditory Neuropathy. Sources: Expert list Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519; Syndromic auditory neuropathy spectrum disorder