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  3. RSG1
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Fetal anomalies

Gene: RSG1

Green List (high evidence)
RSG1 (REM2 and RAB like small GTPase 1)
EnsemblGeneIds (GRCh38): ENSG00000132881
EnsemblGeneIds (GRCh37): ENSG00000132881
RSG1 is in 1 panel

3 reviews

Ida Ertmanska (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for RSG1 is CPLANE2.
Created: 19 Mar 2026, 3:45 p.m. | Last Modified: 19 Mar 2026, 3:45 p.m.
Panel Version: 6.165
Created: 19 Mar 2026, 3:45 p.m.
Last Modified: 19 Mar 2026, 3:45 p.m.
Panel version: 6.165

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Not reviewed in panel app UK, green in Aus panel app. PMID 40593758 Three individuals from unrelated families reported with bi-allelic variants 2 homs, 1 compound het. Missense with functional data. Case 1) Polyhydramnios, bilateral pre-and post-axial polydactyly on hands and feet, hypertelorism, high arched palate. Case 2) aortic coarctation cardiac septal defect and post-axial polydactyly in one hand and pre-axial polydactyly on both feet. Case 3) hypoplastic and cystic dysplastic kidneys, oligohydramnios, microcephaly, and IUGR. Probably enough for green.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ciliopathy

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ciliopathy, MONDO:0005308
Tags
new-gene-name gene-checked
Clinvar variants
Variants in RSG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: RSG1.

19 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RSG1 were changed from ciliopathy to ciliopathy, MONDO:0005308

19 Mar 2026, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: RSG1 were set to

19 Mar 2026, Gel status: 3

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag new-gene-name tag was added to gene: RSG1.

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes ciliopathy for gene: RSG1

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: RSG1 was added gene: RSG1 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: RSG1 was set to BIALLELIC, autosomal or pseudoautosomal