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| IUGR and IGF abnormalities v1.41 | ARCN1 | Ivone Leong Phenotypes for gene: ARCN1 were changed from Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, OMIM:617164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.40 | ARCN1 | Ivone Leong Publications for gene: ARCN1 were set to PMID: 27476655; PMID: 33154040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.39 | ARCN1 | Ivone Leong Classified gene: ARCN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.39 | ARCN1 | Ivone Leong Added comment: Comment on list classification: New gene added by Andžela Lazdāne (Children's Clinical University Hospital of Latvia). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). After consulting the Genomics England Clinical Team it was thought that this gene should be Amber on this panel for now as the skeletal phenotype in association with short stature makes the gene better suited to a skeletal panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.39 | ARCN1 | Ivone Leong Gene: arcn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.35 | ARCN1 | Andžela Lazdāne edited their review of gene: ARCN1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IUGR and IGF abnormalities v1.35 | ARCN1 |
Andžela Lazdāne gene: ARCN1 was added gene: ARCN1 was added to IUGR and IGF abnormalities. Sources: Literature Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARCN1 were set to PMID: 27476655; PMID: 33154040 Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay Penetrance for gene: ARCN1 were set to Complete Review for gene: ARCN1 was set to AMBER Added comment: Pathogenic loss-of-function variants in ARCN1 represent an emerging disorder of developmental delay and skeletal manifestations. Phenotype corresponds to IUGR such as craniofacial disorder characterized by facial dysmorphisms, severe micrognathia, rhizomelic shortening, cleft palate, microcephalic dwarfism and mild developmental delay. Sources: Literature |
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