Epileptic encephalopathyGene: NACC1
Added 'missense' tag, because at the time of curation the evidence came from the 2017 paper, PMID:28132692, which rep[orts a novel missesnse NACC1 mutation in 7 unrelated patients.
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.
11 May 2017, 9:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393
This gene has been classified as Green List (High Evidence).
NACC1 was added to Epileptic encephalopathypanel. Sources: Other
NACC1 was created by rfoulger