Microcephaly
Gene: ARCN1Comment 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
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 ARCN1Created: 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
Gene: arcn1 has been classified as Green List (High Evidence).
Phenotypes for gene: ARCN1 were changed from to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)
Publications for gene: ARCN1 were set to
Mode of inheritance for gene: ARCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: ARCN1 was added gene: ARCN1 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARCN1 was set to Unknown