1. Panels
  2. Prepair 1000+
  3. C19orf12
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: C19orf12

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene-disease association present, animal and cellular models present. Neurodegenerative condition with accumulation of brain iron - phenotype involves spastic paraplegia, Parkinsonism, and behavioural features. Condition may also involve eye movement abnormalities, optic atrophy, dystonia, dysphagia, dysarthria, and motor axonal neuropathy. Onset typically in childhood to early adulthood, but into 5th decade has been reported. Progressive condition.
A report of AD form of inheritance - dominant negative mechanism suggested (PMID: 31087512).
Created: 29 Jul 2024, 7:02 a.m. | Last Modified: 29 Jul 2024, 7:02 a.m.
Panel Version: 1.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodegeneration with brain iron accumulation 4 MIM#614298

Publications

Created: 29 Jul 2024, 7:02 a.m.
Last Modified: 29 Jul 2024, 7:02 a.m.
Panel version: 1.65

History Filter Activity

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: c19orf12 has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: C19orf12 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C19orf12 was added gene: C19orf12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, 614298 (3)