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  3. C12orf65
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Arthrogryposis

Gene: C12orf65

Red List (low evidence)
C12orf65 (chromosome 12 open reading frame 65)
EnsemblGeneIds (GRCh38): ENSG00000130921
EnsemblGeneIds (GRCh37): ENSG00000130921
OMIM: 613541, Gene2Phenotype
C12orf65 is in 17 panels

2 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for C12orf65 is MTRFR
Created: 24 Feb 2021, 2:48 p.m. | Last Modified: 24 Feb 2021, 2:48 p.m.
Panel Version: 3.72
Created: 24 Feb 2021, 2:48 p.m.
Last Modified: 24 Feb 2021, 2:48 p.m.
Panel version: 3.72

Rebecca Foulger (Genomics England curator)

I don't know

Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64
Created: 26 Nov 2019, 3:16 p.m.
Last Modified: 26 Nov 2019, 3:16 p.m.
Panel version: 2.64

History Filter Activity

23 Aug 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: C12orf65 were changed from to Spastic paraplegia 55, autosomal recessive, OMIM:615035

23 Aug 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal

23 Aug 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: C12orf65 were set to

24 Feb 2021, Gel status: 1

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: C12orf65.

26 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Rebecca Foulger (Genomics England curator)

gene: C12orf65 was added gene: C12orf65 was added to Arthrogryposis. Sources: Expert Review Red Mode of inheritance for gene: C12orf65 was set to