Hereditary neuropathy or pain disorder
Gene: SPTBN4should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46Created: 17 Mar 2024, 9:39 p.m. | Last Modified: 17 Mar 2024, 9:39 p.m.
Panel Version: 3.83
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
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: LiteratureCreated: 10 Nov 2020, 5:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519
Publications
Tag Q2_24_promote_green was removed from gene: SPTBN4. Tag Q2_24_NHS_review was removed from gene: SPTBN4.
Tag Q2_24_promote_green tag was added to gene: SPTBN4. Tag Q2_24_NHS_review tag was added to gene: SPTBN4.
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
Tag for-review was removed from gene: SPTBN4. Tag to_be_confirmed_NHSE was removed from gene: SPTBN4.
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)
Tag to_be_confirmed_NHSE tag was added to gene: SPTBN4.
Gene: sptbn4 has been classified as Amber List (Moderate Evidence).
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