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Epileptic encephalopathy

Gene: NACC1

Green List (high evidence)

NACC1 (nucleus accumbens associated 1)
EnsemblGeneIds (GRCh38): ENSG00000160877
EnsemblGeneIds (GRCh37): ENSG00000160877
OMIM: 610672, Gene2Phenotype
NACC1 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

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

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393
OMIM
610672
Clinvar variants
Variants in NACC1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

NACC1 was added to Epileptic encephalopathypanel. Sources: Other

11 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

NACC1 was created by rfoulger