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  3. SPTBN4
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Monogenic hearing loss

Gene: SPTBN4

Amber List (moderate evidence)
SPTBN4 (spectrin beta, non-erythrocytic 4)
EnsemblGeneIds (GRCh38): ENSG00000160460
EnsemblGeneIds (GRCh37): ENSG00000160460
OMIM: 606214, Gene2Phenotype
SPTBN4 is in 7 panels

1 review

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Rating Amber as degree of the deafness phenotype is unclear in 2/4 individuals reported with auditory impairment. Animal model supports association with this presentation but additional congenital/early-onset cases required before inclusion on a diagnostic hearing loss panel (added 'watchlist' tag)
Created: 11 Nov 2020, 11:05 a.m. | Last Modified: 11 Nov 2020, 11:05 a.m.
Panel Version: 2.108
At least 11 individuals from 9 unrelated families with biallelic variants in SPTBN4 reported at present. Of these, two unrelated patients presented early-onset deafness (PMID:28540413, 31230720) and two further unrelated individuals displayed abnormal auditory brain stem responses consistent with auditory neuropathy but no further details regarding the deafness phenotype are provided (PMID:29861105). Furthermore, loss of Sptbn4 in mice causes deafness and auditory neuropathy.
Sources: Literature
Created: 11 Nov 2020, 10:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 11 Nov 2020, 10:57 a.m.

Panel version: 2.107

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519
Tags
watchlist
OMIM
606214
Clinvar variants
Variants in SPTBN4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SPTBN4 were changed from Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519

11 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: sptbn4 has been classified as Amber List (Moderate Evidence).

11 Nov 2020, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: SPTBN4.

11 Nov 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: SPTBN4 was added gene: SPTBN4 was added to Hearing loss. Sources: Literature Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN4 were set to 28540413; 29861105; 31230720; 32672909 Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 Review for gene: SPTBN4 was set to AMBER