Hereditary neuropathy
Gene: SPTBN4
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: LiteratureCreated: 10 Nov 2020, 5:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519
Publications
Gene: sptbn4 has been classified as Green List (High Evidence).
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