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Intellectual disability syndromic and non-syndromic

Gene: ARCN1

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

4 unrelated families reported.
Created: 16 Jun 2021, 10:16 a.m. | Last Modified: 16 Jun 2021, 10:16 a.m.
Panel Version: 0.3882

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)

Publications

Details

Mode of Inheritance
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)
OMIM
600820
Clinvar variants
Variants in ARCN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARCN1 were changed from to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)

16 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARCN1 were set to

16 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ARCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARCN1 was added gene: ARCN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARCN1 was set to Unknown