Research panel - Severe Paediatric Disorders
Gene: C12orf4

C12orf4 (chromosome 12 open reading frame 4)
EnsemblGeneIds (GRCh38): ENSG00000047621
EnsemblGeneIds (GRCh37): ENSG00000047621
OMIM: 616082, Gene2Phenotype
C12orf4 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for C12orf4 is FERRY3
Created: 3 Apr 2024, 10:15 a.m. | Last Modified: 3 Apr 2024, 10:15 a.m.

Panel Version: 1.182

Created: 3 Apr 2024, 10:15 a.m.
Last Modified: 3 Apr 2024, 10:15 a.m.
Panel version: 1.182

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: C12orf4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mental retardation, autosomal recessive 66, 618221 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:16 p.m.
Last Modified: 20 Feb 2020, 5:16 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Intellectual developmental disorder, autosomal recessive 66, OMIM:618221

Tags

new-gene-name

OMIM

616082

Clinvar variants

Variants in C12orf4

Penetrance

None

Publications

30847515

Panels with this gene

Intellectual disability

History Filter Activity

3 Apr 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: C12orf4 were changed from Mental retardation, autosomal recessive 66, 618221 to Intellectual developmental disorder, autosomal recessive 66, OMIM:618221

3 Apr 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: C12orf4.

21 Feb 2020, Gel status: 3