Early onset or syndromic epilepsy

Gene: C12orf57

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

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

• 23453666

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.

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

• 23453666, 24798461, 23633300, 23453665

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