Clefting disorders
Gene: ARCN1EnsemblGeneIds (GRCh38): ENSG00000095139
EnsemblGeneIds (GRCh37): ENSG00000095139
OMIM: 600820, Gene2Phenotype
ARCN1 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Significant PRS requiring surgical management is a feature.Created: 2 Feb 2023, 2:25 a.m. | Last Modified: 2 Feb 2023, 2:25 a.m.
Panel Version: 0.190
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Short stature-micrognathia syndrome, MIM# 617164
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 617164
- OMIM
- 600820
- Clinvar variants
- Variants in ARCN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arcn1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ARCN1 were set to 27476655
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arcn1 has been classified as Green List (High Evidence).
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 Clefting_GEL. Sources: Expert Review Red 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