Ehlers Danlos syndrome with a likely monogenic cause
Gene: RIN2

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

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)

Created: 3 Apr 2019, 3:44 p.m.

Panel version: 1.43

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.

Created: 3 Apr 2019, 3:41 p.m.

Panel version: 1.42

Angela Brady (Nhs)

Green List (high evidence)

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Created: 7 Jul 2017, 6:29 p.m.

Panel version: 0.401

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.

Created: 11 May 2017, 8:46 a.m.

Panel version: 0.381

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