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Dystonia - complex

Gene: NACC1

No list
NACC1 (nucleus accumbens associated 1)
EnsemblGeneIds (GRCh38): ENSG00000160877
EnsemblGeneIds (GRCh37): ENSG00000160877
OMIM: 610672, Gene2Phenotype
NACC1 is in 8 panels

1 review

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 15 Aug 2024, 6:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
chorea; dystonia; epilepsy; microcephaly; cataracts; dysautonomia; iron deficiency anemia; stereotypies

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Aug 2024, 6:33 a.m.

Panel version: 0.235

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • chorea
  • dystonia
  • epilepsy
  • microcephaly
  • cataracts
  • dysautonomia
  • iron deficiency anemia
  • stereotypies
OMIM
610672
Clinvar variants
Variants in NACC1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

15 Aug 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: NACC1 was added gene: NACC1 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NACC1 were set to 38698576 Phenotypes for gene: NACC1 were set to chorea; dystonia; epilepsy; microcephaly; cataracts; dysautonomia; iron deficiency anemia; stereotypies Penetrance for gene: NACC1 were set to unknown Review for gene: NACC1 was set to GREEN gene: NACC1 was marked as current diagnostic