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Inborn errors of metabolism

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 18 panels

6 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was demoted from Green to Red, based on the reviews of clinical experts.
Created: 19 Jun 2019, 12:34 p.m.

Anna de Burca (Genomics England Curator)

Red List (low evidence)

No link to mitochondrial disease & phenotype does not seem particularly similar to a mitochondrial condition
Created: 19 Jun 2019, 12:26 p.m.

Phenotypes
Neurodegeneration with brain iron accumulation 4, 614298; ?Spastic paraplegia 43, autosomal recessive, 615043

Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

Red - not considered a primary mitochondrial disorder
Created: 11 Jun 2019, 3:59 p.m.

Phenotypes
Neurodegeneration with brain iron accumulation 4, 614298; ?Spastic paraplegia 43, autosomal recessive, 615043

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Definitely a green gene, but what is the link to mitochondrial disease?
Created: 27 Aug 2018, 9:52 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 8 Feb 2016, 11:25 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to C19orf12. Source London North GLH was added to C19orf12.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial Membrane Protein-Associated Neurodegeneration; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: C19orf12 was added gene: C19orf12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf12 were set to 27604308 Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Neurodegeneration with brain iron accumulation 4, 614298; Mitochondrial Membrane Protein-Associated Neurodegeneration