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  3. ARCN1
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Fetal anomalies

Gene: ARCN1

Green List (high evidence)
ARCN1 (archain 1)
EnsemblGeneIds (GRCh38): ENSG00000095139
EnsemblGeneIds (GRCh37): ENSG00000095139
OMIM: 600820, Gene2Phenotype
ARCN1 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

4 unrelated families reported.
Created: 16 Jun 2021, 10:16 a.m. | Last Modified: 16 Jun 2021, 10:16 a.m.
Panel Version: 0.3882

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)

Publications

Created: 16 Jun 2021, 10:16 a.m.
Last Modified: 16 Jun 2021, 10:16 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3882

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 27476655
- 4 affecteds from 3 families
- 2 families reported with microcephaly, however only 1 had measurements reported (<-3SD)
- all PTVs
- functional studies knocking down ARCN1
Created: 31 Aug 2020, 3:17 a.m. | Last Modified: 31 Aug 2020, 3:17 a.m.
Panel Version: 0.171

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

Phenotypes
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)

Publications

Created: 31 Aug 2020, 3:17 a.m.
Last Modified: 31 Aug 2020, 3:17 a.m.
Panel version: Imported from Microcephaly panel version 0.171

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164
  • Microcephalic dwarfism
OMIM
600820
Clinvar variants
Variants in ARCN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arcn1 has been classified as Green List (High Evidence).

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARCN1 were set to 27476655

8 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ARCN1 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 publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARCN1 was added gene: ARCN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARCN1 were set to 27476655 Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164; Microcephalic dwarfism