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  2. Hereditary Neuropathy_CMT - isolated
  3. BANF1
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Hereditary Neuropathy_CMT - isolated

Gene: BANF1

Red List (low evidence)
BANF1 (barrier to autointegration factor 1)
EnsemblGeneIds (GRCh38): ENSG00000175334
EnsemblGeneIds (GRCh37): ENSG00000175334
OMIM: 603811, Gene2Phenotype
BANF1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported with de novo variant, Gly16Arg, and a neuropathy.
Sources: Literature
Created: 6 Apr 2024, 7:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related

Publications

Created: 6 Apr 2024, 7:24 a.m.

Panel version: 1.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related
OMIM
603811
Clinvar variants
Variants in BANF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: banf1 has been classified as Red List (Low Evidence).

6 Apr 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BANF1 was added gene: BANF1 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: BANF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BANF1 were set to 36980188 Phenotypes for gene: BANF1 were set to Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related Review for gene: BANF1 was set to RED