Hereditary Neuropathy - complex
Gene: C19orf12

C19orf12 (chromosome 19 open reading frame 12)
EnsemblGeneIds (GRCh38): ENSG00000131943
EnsemblGeneIds (GRCh37): ENSG00000131943
OMIM: 614297, Gene2Phenotype
C19orf12 is in 14 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

NBIA is associated with an SD inheritance pattern. Biallelic variants are more prominent in cases with a neuropathy phenotype.

PMID: 21981780 - NBIA cases in Poland were screened. 4 individuals from three unrelated families with motor axonal neuropathy.
Created: 2 Aug 2023, 1:51 a.m. | Last Modified: 2 Aug 2023, 1:51 a.m.

Panel Version: 0.205

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration with brain iron accumulation 4 (NBIA) (MONDO:0013674)

Publications

21981780

Created: 2 Aug 2023, 1:51 a.m.
Last Modified: 2 Aug 2023, 1:51 a.m.
Panel version: 0.205

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Childhood-onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs

OMIM

614297

Clinvar variants

Variants in C19orf12

Penetrance

None

Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: C19orf12 was added gene: C19orf12 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C19orf12 were set to Childhood-onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs

Hereditary Neuropathy - complex Gene: C19orf12