1. Panels
  2. Anophthalmia_Microphthalmia_Coloboma
  3. C12orf57
STRs in panel
Prev Next
Regions in panel
Prev Next

Anophthalmia_Microphthalmia_Coloboma

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ocular coloboma is part of the phenotype.
Sources: Expert list
Created: 23 Dec 2019, 11:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Temtamy syndrome, MIM#218340

Created: 23 Dec 2019, 11:54 p.m.

Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Temtamy syndrome, MIM#218340
OMIM
615140
Clinvar variants
Variants in C12orf57
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C12orf57 was added gene: C12orf57 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: C12orf57 were set to Temtamy syndrome, MIM#218340 Review for gene: C12orf57 was set to GREEN