Ehlers Danlos syndromes

Gene: RIN2

Green List (high evidence)

RIN2 (Ras and Rab interactor 2)
EnsemblGeneIds (GRCh38): ENSG00000132669
EnsemblGeneIds (GRCh37): ENSG00000132669
OMIM: 610222, Gene2Phenotype
RIN2 is in 3 panels

6 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075;RIN2 syndrome;MACS syndrome
Created: 18 Mar 2021, 1:57 p.m. | Last Modified: 18 Mar 2021, 1:57 p.m.
Panel Version: 2.40

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: RIN2; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Comment on list classification: Promoted from Red to Green due to evidence in the literature
Created: 11 May 2017, 11:55 a.m.
Added to panel as can present with clinical features overlapping EDS
Created: 11 May 2017, 8:46 a.m.
Comment on publications: to support evidence that variants of RIN2 causes cutis laxa
Created: 11 May 2017, 8:46 a.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM
Created: 11 May 2017, 8:44 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
OMIM
610222
Clinvar variants
Variants in RIN2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RIN2 were changed from Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075; RIN2 syndrome; MACS syndrome to Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to RIN2. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

14 Jun 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075; RIN2 syndrome; MACS syndrome

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for RIN2 were set to 19631308; 24449201; 20424861;27277385

11 May 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075; RIN2 syndrome, MACS syndrome

11 May 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for RIN2 were set to 19631308;24449201;20424861

11 May 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for RIN2 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RIN2 was created by ellenmcdonagh

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RIN2 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen