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  3. NACC1
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Microcephaly

Gene: NACC1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Microcephaly mentioned in 5 of 7 reported individuals but no measurements provided.
Created: 31 Aug 2020, 6:43 a.m. | Last Modified: 31 Aug 2020, 6:43 a.m.
Panel Version: 0.195

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: 0.195

Details

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

History Filter Activity

31 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nacc1 has been classified as Amber List (Moderate Evidence).

31 Aug 2020, Gel status: 2

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 , MIM#617393

31 Aug 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NACC1 were set to

31 Aug 2020, Gel status: 2

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

31 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nacc1 has been classified as Amber List (Moderate Evidence).

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