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  3. NACC1
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Cataract

Gene: NACC1

Green List (high evidence)
NACC1 (nucleus accumbens associated 1)
EnsemblGeneIds (GRCh38): ENSG00000160877
EnsemblGeneIds (GRCh37): ENSG00000160877
OMIM: 610672, Gene2Phenotype
NACC1 is in 8 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 28132692;
- identical recurrent de novo heterozygous c.892C>T p.(Arg298Trp)
- 5 out of 7 unrelated probands had bilateral cataracts
Created: 8 Jul 2020, 3:51 a.m. | Last Modified: 8 Jul 2020, 3:51 a.m.
Panel Version: 0.179

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393)

Publications

Created: 8 Jul 2020, 3:51 a.m.
Last Modified: 8 Jul 2020, 3:51 a.m.
Panel version: 0.179

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393)
OMIM
610672
Clinvar variants
Variants in NACC1
Penetrance
None
Panels with this gene

History Filter Activity

8 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nacc1 has been classified as Green List (High Evidence).

8 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NACC1 were changed from to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination (MIM# 617393)

8 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NACC1 was added gene: NACC1 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NACC1 was set to Unknown