Early onset or syndromic epilepsy
Gene: C12orf57
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
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
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.
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
Source Wessex and West Midlands GLH was added to C12orf57.
Source NHS GMS was added to C12orf57.
Zornitza Stark: Early onset, severe seizures a
Gene: c12orf57 has been classified as Green List (High Evidence).
Gene: c12orf57 has been classified as Green List (High Evidence).
Publications for gene: C12orf57 were set to 23453666, 24798461, 23633300, 23453665
Phenotypes for gene: C12orf57 were changed from to Temtamy syndrome 218340
Publications for gene: C12orf57 were set to
Mode of inheritance for gene: C12orf57 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to C12orf57. Panel: Genetic Epilepsy Syndromes
C12orf57 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
C12orf57 was created by Sarah Leigh