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Genetic epilepsy syndromes

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 7 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR Temtamy syndrome - mental retardation/multiple congenital anomaly syndrome characterised by variable craniofacial dysmorphism, ocluar coloboma, seizures and brain abnormalities. Zahrani et al, 4 Saudi sibs - all had seizures- hom variant identifed (c.1A>G). In addition an unrelated Saudi girl was compound het for a the variant repored prev and a splicing variant. Li et al 2007 & Akizu et al, 2013 - 10 patients from 4 consang families - 8 patients had epilepsy - all hom for thr c.1A>G variant. Platzer et al, 2014 - 2 sibs both had early onset intractable seizures - compound het for the c.1A>G and a nonsense variant.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Temtamy syndrome, 218340

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in a total of 56 cases of which 41 had seizures as a phenotypic feature.
Created: 12 Nov 2018, 5:37 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Early onset, severe seizures are part of the phenotype.
Created: 8 Aug 2018, 1:42 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Temtamy syndrome 218340
OMIM
615140
Clinvar variants
Variants in C12orf57
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to C12orf57.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to C12orf57.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Early onset, severe seizures a

12 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: C12orf57 were set to 23453666, 24798461, 23633300, 23453665

12 Nov 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome 218340

12 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: C12orf57 were set to

12 Nov 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: C12orf57 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to C12orf57. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

C12orf57 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

C12orf57 was created by Sarah Leigh