This Panel is marked as Retired
Epileptic encephalopathy
Gene: NACC1
NACC1 (nucleus accumbens associated 1)
EnsemblGeneIds (GRCh38): ENSG00000160877
EnsemblGeneIds (GRCh37): ENSG00000160877
OMIM: 610672, Gene2Phenotype
NACC1 is in 5 panels
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.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
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