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Intellectual disability

Gene: ARCN1

Green List (high evidence)

ARCN1 (archain 1)
EnsemblGeneIds (GRCh38): ENSG00000095139
EnsemblGeneIds (GRCh37): ENSG00000095139
OMIM: 600820, Gene2Phenotype
ARCN1 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added by External review and reviewed by curation team, enough evidence to support gene-disease association and rating of this gene to Green.
Created: 17 Sep 2018, 10:31 a.m.
New gene added by external expert review, who notes that there are 3 unrelated families reported in the literature (From OMIM based on report of 4 patients from 3 families- single report PMID:27476655, ID is part of the phenotype. Publication supports gene-disease association and rating of this gene to Green.
Created: 17 Sep 2018, 10:25 a.m.
Comment on phenotypes: added OMIM MIMid
Created: 17 Sep 2018, 10:13 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

De novo variants in 3 unrelated families, meets inclusion criteria.
Created: 20 Jun 2018, 3:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
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

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ARCN1.

17 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

17 Sep 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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, 617164

20 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

ARCN1 was added to Intellectual disability panel. Sources: Literature

20 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

ARCN1 was created by Zornitza Stark