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| Early onset or syndromic epilepsy v1.191 | SIX3 | Rebecca Foulger Source Wessex and West Midlands GLH was added to SIX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | SIX3 | Rebecca Foulger Source NHS GMS was added to SIX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | SIX3 | Rebecca Foulger reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | SIX3 | Tracy Lester reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: 15523651, 21940735 ; Phenotypes: Holoprosencephaly 2, 157170, Schizencephaly, 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1509 | SIX3 | Sarah Leigh Added comment: Comment on publications: PMID 18791198 discusses incomplete penetrance. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1509 | SIX3 | Sarah Leigh Publications for gene: SIX3 were set to 28670735; 20157829; 19346217 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1506 | SIX3 | Sarah Leigh Marked gene: SIX3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1506 | SIX3 |
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene, however, seizures have only been reported in two cases of SIX3 variant carriers. In PMID: 20157829, patient 4 had a seizure but certain epilepsy characteristic activity in the subsequent electroencephalogram (EEG) was not met. The variants (c.618C>A + c.621G>A; p.Gly206Gly + p.Glu207Glu) were found in this case. The synonymous variant c.621G>A, was not predicted to effect splicing, although it was was predicted to create a consensus sequence motif for an additional SF2/ASF (score 2.71378; threshold 1.956) as well as SRp40 (score 2.98263; threshold 2.67) splice enhancer. Both consensus sequences are recognized by the human proteins SF2/ASF or SRp40, respectively, and are important for the recognition and utilization of regular as well as alternative splice sites (Wang et al. 2005), and these may be considered to be pathogenic. In PMID 28670735 a deletion of SIX3 gene was reported in a case with seizures, but incomplete penetrance has been suggested. The publication PMID 19346217 mentions seizures as a clinical feature, however, precise details about cases cannot be found as the supplementary material tables 1a & b are no longer available (the authors have been contacted, December 2018). |
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| Early onset or syndromic epilepsy v0.1506 | SIX3 | Sarah Leigh Gene: six3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1504 | SIX3 | Sarah Leigh Publications for gene: SIX3 were set to 28670735; 20157829 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1377 | SIX3 | Sarah Leigh Added comment: Comment on publications: Variants reported in following articles in either Holoprosencephaly 2 157170 or Schizencephaly 269160 however, seizures are not mentioned in the patients being reported PMID: 19353631, 17001667, 10369266, 15523651. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1377 | SIX3 | Sarah Leigh Publications for gene: SIX3 were set to 28670735; 20157829 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1369 | SIX3 | Sarah Leigh Publications for gene: SIX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1368 | SIX3 |
Sarah Leigh Source Victorian Clinical Genetics Services was removed from SIX3. Source Literature was added to SIX3. Penetrance for gene SIX3 was set from to None |
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| Early onset or syndromic epilepsy v0.1365 | SIX3 | Sarah Leigh Added comment: Comment on phenotypes: Schizencephaly 269160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1365 | SIX3 | Sarah Leigh Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 157170 to Holoprosencephaly 2 157170; Schizencephaly 269160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1338 | SIX3 | Sarah Leigh Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2 157170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1337 | SIX3 | Sarah Leigh Mode of inheritance for gene: SIX3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy | SIX3 | Zornitza Stark reviewed gene: SIX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy | SIX3 | Sarah Leigh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||