ARCN1

archain 1
OMIM: 600820, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green ARCN1 in Mendeliome Version 1.3512	1 review	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)
Green ARCN1 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.357	2 reviews	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)
Green ARCN1 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.53	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Short stature-micrognathia syndrome, MIM# 617164
Green ARCN1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)
Green ARCN1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.278	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 617164
Green ARCN1 in Fetal anomalies Version 1.465	2 reviews	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