ARCN1

archain 1 coat protein complex I subunit delta
OMIM: 600820, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber ARCN1 in Cataract Level 2: Ophthalmological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)
Green ARCN1 in Mendeliome Version 2.588	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 2.32	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 1.5	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 2.145	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 Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.151	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services 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 1.25	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 Growth failure Version 2.28	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)
Green ARCN1 in Fetal anomalies Version 2.81	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