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Genetic epilepsy syndromes

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

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

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

Rebecca Foulger (Genomics England curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Other
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393
OMIM
610672
Clinvar variants
Variants in NACC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NACC1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NACC1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Rebecca Foulger: Comment on list classification

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to NACC1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NACC1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Other

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

NACC1 was created by Sarah Leigh