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Hereditary neuropathy

Gene: MAP1B

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MAP1B (microtubule associated protein 1B)
EnsemblGeneIds (GRCh38): ENSG00000131711
EnsemblGeneIds (GRCh37): ENSG00000131711
OMIM: 157129, Gene2Phenotype
MAP1B is in 2 panels

1 review

Aleš Maver (Clinical Institute of Medical Genetics)

Red List (low evidence)

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.
Sources: Other
Created: 24 Mar 2020, 2:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Giant Axonal Neuropathy-like phenotype, polyneuropathy

Publications

  • https://n.neurology.org/content/92/15_Supplement/P3.4-037

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Giant Axonal Neuropathy-like phenotype, polyneuropathy
OMIM
157129
Clinvar variants
Variants in MAP1B
Penetrance
unknown
Publications
  • https://n.neurology.org/content/92/15_Supplement/P3.4-037
Panels with this gene

History Filter Activity

24 Mar 2020, Gel status: 0

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

Aleš Maver (Clinical Institute of Medical Genetics)

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