Microcephaly
Gene: ARCN1

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)

Comment when marking as ready: Borderline Amber/Green. Microcephaly is a key part of the phenotype but few measurements actually reported.
Created: 31 Aug 2020, 6:12 a.m. | Last Modified: 31 Aug 2020, 6:12 a.m.

Panel Version: 0.180

Created: 31 Aug 2020, 6:12 a.m.
Last Modified: 31 Aug 2020, 6:12 a.m.
Panel version: 0.180

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

27476655

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

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

600820

Clinvar variants

Variants in ARCN1

Penetrance

None

Publications

27476655

Panels with this gene