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  3. SPTBN4
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Hereditary neuropathy or pain disorder

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

3 reviews

Alexander Rossor (UCL Institute of Neurology)

should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46
Created: 17 Mar 2024, 9:39 p.m. | Last Modified: 17 Mar 2024, 9:39 p.m.
Panel Version: 3.83
Created: 17 Mar 2024, 9:39 p.m.
Last Modified: 17 Mar 2024, 9:39 p.m.
Panel version: 3.83

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

At least six SPTBN4 variants have been associated with OMIM:617519, which includes axonal and demyelinating peripheral neuropathy as one of the clinical features. Six SPTBN4 variants have been reported by PMID: 28540413;29861105 in five unrelated cases of OMIM:617519.
Created: 13 May 2024, 8:57 a.m. | Last Modified: 13 May 2024, 8:57 a.m.
Panel Version: 4.11
The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Created: 15 Mar 2022, 3:48 p.m. | Last Modified: 15 Mar 2022, 3:48 p.m.
Panel Version: 1.88

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 15 Mar 2022, 3:48 p.m.
Last Modified: 15 Mar 2022, 3:48 p.m.
Panel version: 4.11

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 9:32 a.m. | Last Modified: 2 May 2024, 9:32 a.m.
Panel Version: 4.3
Comment on list classification: Following discussion with Helen Brittain (Genomics England Clinical Team) it has been agreed to add this gene as Amber, awaiting review by the GMS specialist group (added 'for-review' tag).

Although neuropathy is reported in at least 5 unrelated cases with biallelic SPTBN4 variants, the phenotype relevance requires review due to the more limited scope of this panel.
Created: 10 Nov 2020, 5:40 p.m. | Last Modified: 10 Nov 2020, 5:40 p.m.
Panel Version: 1.17
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, 5:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 10 Nov 2020, 5:33 p.m.

Panel version: 4.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • 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

13 May 2024, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: SPTBN4. Tag Q2_24_NHS_review was removed from gene: SPTBN4.

13 May 2024, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_24_promote_green tag was added to gene: SPTBN4. Tag Q2_24_NHS_review tag was added to gene: SPTBN4.

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

2 May 2024, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: SPTBN4. Tag to_be_confirmed_NHSE was removed from gene: SPTBN4.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to SPTBN4. Source Expert Review Green was added to SPTBN4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Mar 2022, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag to_be_confirmed_NHSE tag was added to gene: SPTBN4.

10 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).

10 Nov 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: SPTBN4 was added gene: SPTBN4 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature for-review tags were added to gene: SPTBN4. 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 AMBER