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  3. ARCN1
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Fetal anomalies

Gene: ARCN1

Green List (high evidence)
ARCN1 (archain 1)
EnsemblGeneIds (GRCh38): ENSG00000095139
EnsemblGeneIds (GRCh37): ENSG00000095139
OMIM: 600820, Gene2Phenotype
ARCN1 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in ARCN1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).
Created: 18 Apr 2019, 3:51 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.
Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [ARCN1 should be on the Fetal anomalies panel]. All [patients from PMID:27476655] have a degree of developmental delay, although most were mildy affected (useful for parents to have this information). Microcephaly and IUGR will be seen on ultrasound scan as well as structural anomalies, e.g. diaphragmatic hernia, VSD and severe micrognathia (some of these patients may need a paediatrician at birth for airway management as some have required tracheostomies). Cleft palate would likely be missed in most cases on ultrasound scan.
Created: 11 Feb 2019, 11:18 a.m.
Additional information to support Green rating: 4 patients from 3 families in Izumi et al., 27476655, 2016 of patients with Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay. All individuals had short stature but just 2 families (subjects 3 and 4 are related) with microcephaly. Genomics England Clinical team (Helen Brittain) notes that IUGR is listed as a feature therefore could present in a fetus, also a smattering of structural malformations e.g. CHD / cleft which might also be detected in utero so probably OK to include.
Created: 11 Feb 2019, 11:16 a.m.
Comment on list classification: Updated rating from Amber to Green: Rated Green on relevant V1 panel(s) PLUS phenotype (Microcephalic dwarfism) appropriate for fetal panel, as noted by Helen Brittain and Anna de Burca (Genomics England Clinical team).
Created: 18 Dec 2018, 9:01 p.m.
DDG2P rating in original PAGE list: Probable for Microcephalic dwarfism
Created: 11 Dec 2018, 9:04 a.m.

Publications

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.183

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Microcephalic dwarfism
  • 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

11 Feb 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ARCN1 were set to

11 Feb 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ARCN1 were changed from Microcephalic dwarfism to Microcephalic dwarfism; Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164

18 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: arcn1 has been classified as Green List (High Evidence).

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ARCN1 was added gene: ARCN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARCN1 were set to Microcephalic dwarfism