Congenital myopathy

Gene: SPTBN4

Red List (low evidence)

SPTBN4 (spectrin beta, non-erythrocytic 4)
EnsemblGeneIds (GRCh38): ENSG00000160460
EnsemblGeneIds (GRCh37): ENSG00000160460
OMIM: 606214, Gene2Phenotype
SPTBN4 is in 8 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID: 33772159: Four families with five patients harbouring novel homozygous and compound heterozygous SPTBN4. All patients presented with the key features of NEDHND. Additional symptoms comprised horizontal nystagmus, epileptiform discharges in EEG without manifest seizures, and choreoathetosis. Muscle histology revealed both characteristics of myopathy and of neuropathy. The evidence for a myopathy is mostly from the clinical and histopathological findings, but not from functional studies about the role of SPTBN4 in muscle cells. Further studies are thus needed to determine the impact of pathogenic SPTBN4 variants on the muscle cells. The clinical phenotyping and neurophysiological studies suggest that the muscle weakness seen in patients with SPTBN4 disorder may be caused by a combination of axonal neuropathy and congenital myopathy.
Created: 7 Aug 2021, 7:34 a.m. | Last Modified: 7 Aug 2021, 7:34 a.m.
Panel Version: 2.56

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added to panel based on new gene/phenotype relationship in OMIM but kept rating as red as only 1 reported case to date (PMID:28540413) plus animal model. No disease recorded yet in DD-G2P for SPTBN4.
Created: 15 Aug 2017, 2:01 p.m.
In a boy, born of consanguineous Kurdish parents, with congenital myopathy, neuropathy, and deafness (CMND; MIM:617519), Knierim et al. (2017, PMID:28540413) identified a homozygous truncating mutation in the SPTBN4 gene (Q533X).
Created: 15 Aug 2017, 1:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Myopathy, congenital, with neuropathy and deafness, 617519

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Myopathy, congenital, with neuropathy and deafness, 617519
OMIM
606214
Clinvar variants
Variants in SPTBN4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

15 Aug 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SPTBN4 was created by rfoulger

15 Aug 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SPTBN4 was added to Congenital myopathypanel. Sources: Other