Hereditary neuropathy NOT PMP22 copy numberGene: SPTBN4
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.
Created: 10 Nov 2020, 5:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519
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