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Intellectual disability

Gene: NACC1

Green List (high evidence)

NACC1 (nucleus accumbens associated 1)
EnsemblGeneIds (GRCh38): ENSG00000160877
EnsemblGeneIds (GRCh37): ENSG00000160877
OMIM: 610672, Gene2Phenotype
NACC1 is in 7 panels

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_manual . Main mutation mechanism : Missense
Created: 27 Jul 2017, 7:45 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Manual assessment of Genes of interest from literature searches and personal communication

Mode of pathogenicity
Other

Rebecca Foulger (Genomics England curator)

Added 'missense' tag, because at the time of curation, the evidence came from the 2017 paper, PMID:28132692, which found the same missense variant in 7 unrelated patients.
Created: 11 May 2017, 9:32 a.m.
Comment on list classification: Updated rating from Red to Green. NACC1 added to ID panel based on March 2017 OMIM updates. Green rating agreed with Arianna Tucci based on 7 unrelated patients in PMID:28132692.
Created: 11 May 2017, 9:23 a.m.
In 7 unrelated patients with neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (MIM:617393), Schoch et al. (2017, PMID:28132692) identified a recurrent de novo heterozygous transition (c.892C-T, NM_052876.3) in the NACC1 gene, resulting in an arg298-to-trp (R298W) substitution at a highly conserved residue. One of the patients (patient 7) was mosaic for the mutation.
Created: 11 May 2017, 9:21 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
  • profound developmental delay
Tags
missense
OMIM
610672
Clinvar variants
Variants in NACC1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to NACC1.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

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

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for NACC1 were set to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393; profound developmental delay

11 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

NACC1 was added to Intellectual disabilitypanel. Sources: Other

11 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

NACC1 was created by rfoulger