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  2. Hydrocephalus_Ventriculomegaly
  3. C12orf57
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Hydrocephalus_Ventriculomegaly

Gene: C12orf57

Green List (high evidence)
C12orf57 (chromosome 12 open reading frame 57)
EnsemblGeneIds (GRCh38): ENSG00000111678
EnsemblGeneIds (GRCh37): ENSG00000111678
OMIM: 615140, Gene2Phenotype
C12orf57 is in 10 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

17/50 individuals reported with ventriculomegaly
Sources: Literature
Created: 15 Mar 2022, 1:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Temtamy syndrome MIM#218340

Publications

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

Created: 15 Mar 2022, 1:11 a.m.

Panel version: 0.111

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Temtamy syndrome MIM#218340
OMIM
615140
Clinvar variants
Variants in C12orf57
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: c12orf57 has been classified as Green List (High Evidence).

15 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: c12orf57 has been classified as Green List (High Evidence).

15 Mar 2022, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: C12orf57 was added gene: C12orf57 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C12orf57 were set to 29383837; 31853307 Phenotypes for gene: C12orf57 were set to Temtamy syndrome MIM#218340 Penetrance for gene: C12orf57 were set to Complete Review for gene: C12orf57 was set to GREEN gene: C12orf57 was marked as current diagnostic