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  3. SPTBN4
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Hereditary 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 7 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added as Green - sufficient number of unrelated cases (at least 5) presenting neuropathy in association with biallelic variants in the SPTBN4 gene.
Created: 10 Nov 2020, 5:29 p.m. | Last Modified: 10 Nov 2020, 5:29 p.m.
Panel Version: 1.379
At least 11 individuals from 9 unrelated families with biallelic variants in SPTBN4 reported at present. Motor neuronopathy/axonopathy was reported in 5 unrelated families. A formal evaluation by EMG/NCS was not conducted in the rest but phenotypes did include hypotonia and hyporeflexia which could be suggestive of neuropathy.
Sources: Literature
Created: 10 Nov 2020, 5:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 10 Nov 2020, 5:23 p.m.

Panel version: 1.378

Details

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

History Filter Activity

2 May 2024, Gel status: 3

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

10 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

10 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 Hereditary neuropathy. Sources: Literature Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN4 were set to 28540413; 28940097; 29861105; 31230720; 31857255; 32672909 Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 Review for gene: SPTBN4 was set to GREEN