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  3. RPS23
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Hypertrichosis syndromes

Gene: RPS23

Amber List (moderate evidence)
RPS23 (ribosomal protein S23)
EnsemblGeneIds (GRCh38): ENSG00000186468
EnsemblGeneIds (GRCh37): ENSG00000186468
OMIM: 603683, Gene2Phenotype
RPS23 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated individuals and some functional data.
Created: 10 Mar 2020, 7:59 a.m. | Last Modified: 10 Mar 2020, 7:59 a.m.
Panel Version: 0.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brachycephaly, trichomegaly, and developmental delay, MIM# 617412

Publications

Created: 10 Mar 2020, 7:59 a.m.
Last Modified: 10 Mar 2020, 7:59 a.m.
Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Brachycephaly, trichomegaly, and developmental delay, MIM# 617412
OMIM
603683
Clinvar variants
Variants in RPS23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps23 has been classified as Amber List (Moderate Evidence).

10 Mar 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPS23 were changed from to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412

10 Mar 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPS23 were set to

10 Mar 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RPS23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps23 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPS23 was added gene: RPS23 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPS23 was set to Unknown