Hereditary neuropathyGene: MAP1B
Comment on list classification: Rating Red as only a single family reported with a homozygous MAP1B variant and polyneuropathy. Furthermore, the article identified by the expert reviewer is currently not published in PubMed. Additional cases required to support this gene-disease association.
Created: 11 Nov 2020, 2:13 p.m. | Last Modified: 11 Nov 2020, 2:13 p.m.
Panel Version: 1.380
A single consanguineous family with three sibs affected by giant axonal neuropathy has been reported with walking difficulty, progressive lower extremity weakness and ataxia. All affected sibs were homozygous for the c.5521A>G, p.M1841V variant in MAP1B. Two brothers homozygous for the variant were also reported to have body mass index over 40. Nerve conduction studies revealed a severe sensory motor polyneuropathy.
Created: 24 Mar 2020, 2:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Giant Axonal Neuropathy-like phenotype, polyneuropathy
Gene: map1b has been classified as Red List (Low Evidence).
gene: MAP1B was added gene: MAP1B was added to Hereditary neuropathy. Sources: Other Mode of inheritance for gene: MAP1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAP1B were set to https://n.neurology.org/content/92/15_Supplement/P3.4-037 Phenotypes for gene: MAP1B were set to Giant Axonal Neuropathy-like phenotype, polyneuropathy Penetrance for gene: MAP1B were set to unknown Review for gene: MAP1B was set to RED