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Severe microcephaly

Gene: ARCN1

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Borderline Amber/Green. Microcephaly is a key part of the phenotype but few exact measurements actually reported.
Sources: Expert list
Created: 31 Aug 2020, 11:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)
OMIM
600820
Clinvar variants
Variants in ARCN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ARCN1 was added gene: ARCN1 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARCN1 were set to 27476655 Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164) Review for gene: ARCN1 was set to GREEN gene: ARCN1 was marked as current diagnostic