Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: C12orf4

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Created: 17 Sep 2018, 11:55 a.m.
Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green.
Created: 17 Sep 2018, 11:55 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two Finnish (founder effect), one Dutch, and one Arab families reported with biallelic variants in this gene and mild/moderate ID. Not yet in OMIM as a disorder.
Created: 22 Jun 2018, 10:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Autosomal recessive intellectual disability
OMIM
616082
Clinvar variants
Variants in C12orf4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to C12orf4.

17 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: c12orf4 has been classified as Green List (High Evidence).

17 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: c12orf4 has been classified as Green List (High Evidence).

17 Sep 2018, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: C12orf4 were set to 27311568, 25558065

17 Sep 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: C12orf4 were changed from to Autosomal recessive intellectual disability

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

C12orf4 was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

C12orf4 was created by Zornitza Stark