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Fetal anomalies

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

3 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Comment on phenotypes: Fetal anomalies reported include cataracts (5/7 patients) and microcephaly (5/7) patients
Created: 25 Feb 2022, 4:17 a.m. | Last Modified: 25 Feb 2022, 4:17 a.m.
Panel Version: 0.4235
Created: 25 Feb 2022, 4:17 a.m.
Last Modified: 25 Feb 2022, 4:17 a.m.
Panel version: 0.4235

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Publications

Created: 31 Aug 2020, 6:43 a.m.
Last Modified: 31 Aug 2020, 6:43 a.m.
Panel version: 0.4256

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: Imported from Cataract panel version 0.179

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • 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
Publications
Panels with this gene

History Filter Activity

25 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

25 Feb 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: NACC1 were changed from Infantile Epilepsy, Cataracts, and Profound Developmental Delay to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination, MIM# 617393)

25 Feb 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: NACC1 were set to

25 Feb 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

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

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NACC1 was added gene: NACC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay