Early onset or syndromic epilepsy
Gene: NACC1
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
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
Source Wessex and West Midlands GLH was added to NACC1.
Source NHS GMS was added to NACC1.
Rebecca Foulger: Comment on list classification
Victorian Clinical Genetics Services was added to NACC1. Panel: Genetic Epilepsy Syndromes
NACC1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Other
NACC1 was created by Sarah Leigh