Early onset or syndromic epilepsy

Gene: NACC1

Green List (high evidence)

AD neurodevelopemntal disorder with epilepsy, cataracts, feeding difficulties and delayed brain myelination (NECFM). Schoch et al, 2017 - 7 unrelated patients - all had seizures although 6/7 dfeveloped in first year of life. Recurrent de novo het missense mutation in the NACC1 gene - R298W, no functional work. Patient 7 - was mosaic for the 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination

Publications

• 28132692

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

Added 'missense' tag, because at the time of curation the evidence came from the 2017 paper, PMID:28132692, which reports a novel missesnse NACC1 mutation in 7 unrelated patients.

Created: 11 May 2017, 9:30 a.m.

Comment on list classification: Updated rating from Red to Green: NACC1 added to Epileptic encephalopathy panel based on March 2017 OMIM updates and recommendation by Arianna Tucci. 7 unrelated patients in PMID:28132692 with the same heterozygous missense NACC1 variant.

Created: 11 May 2017, 9:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393

Publications

• 28132692