Early onset or syndromic epilepsy

Gene: PIGT

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 multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3). Kvarnug et al, 2013 - 4 aff members of a consang Turkish family- hom missense variant - studies showed that the variant led to a defect in enzyme function. Nakashima et al, 2014 - Japanese girl - compoind het for a nonsense and a missense variant - transfection studies support pathogenicity. Skauli et al, 2016 - 2 brothers consang Somali origin - hom missense variant - in vitro studies undertaken. Kohashi et al, 2018 - compound het for nonsense and missense 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
?Paroxysmal nocturnal hemoglobinuria,615399; Multiple congenital anomalies-hypotonia-seizures syndrome,615398

Publications

• 24906948
• 23636107

Green List (high evidence)

Comment on list classification: Sufficient evidence for this gene to be green on this panel

Created: 4 May 2017, 1:22 p.m.

3 new variants in 2 families (PMID 28327575). A total of 6 variants have now been reported, this gene is also a confirmed G2P gene for Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398

Created: 4 May 2017, 1:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398

Publications

• 28327575